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Results for "TRAK1"

Variant Events: 23

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
TRAK1     PN400486chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400308chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400323chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400231chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400484chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400515chr3:
42244049-42244049		GAexonicUnknown, Inheritednonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
Leblond2019 E
TRAK1     AU4423303chr3:
42249204-42249204		CTintronicDe novo--Yuen2017 G
TRAK1     1-0896-003chr3:
42190630-42190630		CTintronicDe novo--Yuen2017 G
TRAK1     PN400393chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     1-0507-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
TRAK1     PN400182chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     AU3636302chr3:
42291404-42291406		CTTCTintergenicDe novo--Yuen2017 G
TRAK1     14474.p1chr3:
42235388-42235388		GAexonicDe novononsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G751A
c.G751A
c.G799A
c.G973A
c.G973A		p.E251K
p.E251K
p.E267K
p.E325K
p.E325K		36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
TRAK1     PN400111chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400240chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400257chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     A28chr3:
42178872-42178872		TCintronicDe novo--Wu2018 G
TRAK1     PN400117chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     2-0045-003chr3:
42172644-42172644		AGintronicDe novo--Yuen2016 G
Yuen2017 G
TRAK1     PN400230chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     1-0329-004chr3:
42199047-42199047		AAAAGTAACACintronicDe novo--Yuen2017 G
TRAK1     PN400260chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
TRAK1     PN400498chr3:
42244049-42244049		GAexonicUnknownnonsynonymous SNVNM_001265609
NM_001265610
NM_014965
NM_001042646
NM_001265608		c.G1327A
c.G1327A
c.G1375A
c.G1549A
c.G1549A		p.E443K
p.E443K
p.E459K
p.E517K
p.E517K		28.30.0023Leblond2019 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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