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Results for "GRK2"

Variant Events: 9

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
GRK2     AU3885304chr11:
67055040-67055040
AGintergenicDe novo--Yuen2017 G
GRK2     JASD_Fam0070chr11:
67051346-67051346
CTexonicDe novononsynonymous SNVNM_001619c.C1417Tp.P473S25.1-Takata2018 E
GRK2     1-0640-003chr11:
67035820-67035820
GAintronicDe novo--Trost2022 G
Yuen2017 G
GRK2     SSC09642chr11:
67048606-67048606
GAexonicnonsynonymous SNVNM_001619c.G598Ap.G200R32.0-Antaki2022 GE
GRK2     2-1477-003chr11:
67044633-67044633
TGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
GRK2     13968.p1chr11:
67048606-67048606
GAexonicnonsynonymous SNVNM_001619c.G598Ap.G200R32.0-Zhou2022 GE
GRK2     2-1811-004chr11:
67050422-67050422
CTintronicDe novo--Trost2022 G
GRK2     80001103005chr11:
67049288-67049288
CTintronicDe novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GRK2     A000426chr11:
67048965-67048965
AGexonicDe novononsynonymous SNVNM_001619c.A683Gp.K228R22.28.306E-6Fu2022 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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