Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.C470Y

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
1 paper
NM_005633.4
p.C470Y
c.1409G>A
Surrounding Variants
1 paper
NM_005633.4
p.C470*
c.1410C>A
1 paper
NM_005633.4
p.I469M
c.1407T>G
1 paper
NM_005633.4
p.M468R
c.1403T>G
1 paper
NM_005633.4
p.M468T
c.1403T>C
1 paper
NM_005633.4
p.L467*
c.1400T>A
1 paper
NM_005633.4
p.L467V
c.1399T>G
1 paper
NM_005633.4
p.N474H
c.1420A>C
2 papers
NM_005633.4
p.G466A
c.1397G>C
1 paper
NM_005633.4
p.N474K
c.1422T>G
1 paper
NM_005633.4
p.N474K
c.1422T>A
1 paper
NM_005633.4
p.D465E
c.1395T>G
1 paper
NM_005633.4
p.D465E
c.1395T>A
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