Varaico: Literature-Extracted Genetic Variants

Gene:GRAP
Variant:p.Q104L

GRAP

20 papers

RefSeq Summary

This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-ac...

Pfam Domains

SH3_1aa 4–50UCSCSH3 domain
SH2aa 60–115UCSCSH2 domain
SH3_1aa 164–209UCSCSH3 domain

Gene Aliases

HGNC Name

GRB2 related adaptor protein

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006613.4
p.Q104L
c.311A>T
Surrounding Variants
1 paper
NM_006613.4
p.R112S
c.334C>A
1 paper
NM_006613.4
p.S115L
c.344C>T
1 paper
NM_006613.4
p.G116E
c.347G>A
1 paper
NM_006613.4
p.L131P
c.392T>C
1 paper
NM_006613.4
p.D133H
c.397G>C
1 paper
NM_006613.4
p.D133N
c.397G>A
1 paper
NM_006613.4
p.I140T
c.419T>C
1 paper
NM_006613.4
p.R180C
c.538C>T
1 paper
NM_006613.4
p.D183N
c.547G>A
1 paper
NM_006613.4
p.I185T
c.554T>C
1 paper
NM_006613.4
p.R203H
c.608G>A
1 paper
NM_006613.4
p.R209W
c.625C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."