Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.Q61H

SOS1

956 papers

RefSeq Summary

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding ...

Pfam Domains

RhoGEFaa 211–388UCSCRhoGEF domain
SOS1_NGEF_PHaa 439–544UCSCSOS1/NGEF-like PH domain
RasGEF_Naa 600–717UCSCRasGEF N-terminal motif
RasGEFaa 783–962UCSCRasGEF domain

Gene Aliases

HGNC Name

SOS Ras/Rac guanine nucleotide exchange factor 1

HGNC Previous Symbol

GINGF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_005633.4
p.Q61H
c.183A>C
Surrounding Variants
6 papers
NM_005633.4
p.Q61H
c.183A>T
10 papers
NM_005633.4
p.Q61L
c.182A>T
13 papers
NM_005633.4
p.Q61R
c.182A>G
4 papers
NM_005633.4
p.Q61P
c.182A>C
1 paper
NM_005633.4
p.Q61*
c.181C>T
2 papers
NM_005633.4
p.Q61E
c.181C>G
6 papers
NM_005633.4
p.Q61K
c.181C>A
4 papers
NM_005633.4
p.C60S
c.179G>C
2 papers
NM_005633.4
p.C60Y
c.179G>A
1 paper
NM_005633.4
p.C60S
c.178T>A
8 papers
NM_005633.4
p.Q63R
c.188A>G
2 papers
NM_005633.4
p.M58V
c.172A>G
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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."