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Results for "BRAF"

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
BRAF     G9P3Xchr7:
140501320-140501320
CTexonicUnknownnonsynonymous SNVNM_004333c.G752Ap.C251Y19.58-Wang2020 T
Wang2020 T
BRAF     410451chr7:
140476854-140476854
CAexonicUnknownnonsynonymous SNVNM_004333c.G1552Tp.G518C32.0-Wang2020 T
Wang2020 T
BRAF     DEASD_0164_001chr7:
140481409-140481409
ACexonicDe novononsynonymous SNVNM_004333c.T1399Gp.S467A19.26-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
BRAF     2-1690-003chr7:
140457297-140457297
CTintronicDe novo--Yuen2017 G
BRAF     7-0055-003chr7:
140467372-140467372
GAintronicDe novo--Yuen2017 G
BRAF     2-1415-004chr7:
140579411-140579411
CCAATTintronicDe novo--Yuen2017 G
BRAF     AU002405chr7:
140578162-140578162
TCintronicDe novo--Yuen2017 G
BRAF     08C77381chr7:
140624469-140624469
GAexonicDe novononsynonymous SNVNM_004333c.C35Tp.A12V13.73-Satterstrom2020 E
BRAF     Mahjani2021:54chr7:
140476813-140476813
CAexonicnonsynonymous SNVNM_004333c.G1593Tp.W531C23.8-Mahjani2021 E
BRAF     AU1308303chr7:
140451767-140451767
TCintronicDe novo--Yuen2017 G
BRAF     AU3712301chr7:
140479718-140479718
CTintronicDe novo--Yuen2017 G
BRAF     AU3760301chr7:
140576567-140576567
GTintronicDe novo--Yuen2017 G
BRAF     5-0061-003chr7:
140569745-140569745
TCintronicDe novo--Yuen2017 G
BRAF     AU3918301chr7:
140636003-140636003
AGintergenicDe novo--Yuen2017 G
BRAF     7-0247-003chr7:
140508250-140508250
AGintronicDe novo--Yuen2017 G
BRAF     7-0179-003chr7:
140645285-140645306
CTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTintergenicDe novo--Yuen2017 G
BRAF     H5Z7Ychr7:
140439727-140439727
CTexonicUnknownnonsynonymous SNVNM_004333c.G2012Ap.R671Q35.08.327E-6Wang2020 T
Wang2020 T
BRAF     X5Z6Echr7:
140476733-140476733
CTexonicUnknownnonsynonymous SNVNM_004333c.G1673Ap.R558Q36.0-Wang2020 T
Wang2020 T
BRAF     7-0100-003chr7:
140673074-140673074
GAintergenicDe novo--Yuen2017 G
BRAF     03C17233chr7:
140534477-140534477
GAexonicUnknownnonsynonymous SNVNM_004333c.C436Tp.R146W20.8-Wang2020 T
Wang2020 T
BRAF     SF0044376.p1chr7:
140507849-140507849
TCexonicDe novononsynonymous SNVNM_004333c.A622Gp.I208V12.918.255E-6Wang2020 T
BRAF     SF0068911.p1chr7:
140481451-140481451
GCexonicDe novononsynonymous SNVNM_004333c.C1357Gp.P453A18.448.24E-6Wang2020 T
BRAF     Mahjani2021:40chr7:
140434522-140434522
GAexonicnonsynonymous SNVNM_004333c.C2176Tp.R726C32.0-Mahjani2021 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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