Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.R854P

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.R854P
c.2561G>C
Surrounding Variants
2 papers
NM_005633.4
p.R854Q
c.2561G>A
1 paper
NM_005633.4
p.R854*
c.2560C>T
1 paper
NM_005633.4
p.S853G
c.2557A>G
1 paper
NM_005633.4
p.I856V
c.2566A>G
3 papers
NM_005633.4
p.I856T
c.2567T>C
1 paper
NM_005633.4
p.I856N
c.2567T>A
1 paper
NM_005633.4
p.V852L
c.2554G>T
1 paper
NM_005633.4
p.V852L
c.2554G>C
1 paper
NM_005633.4
p.E857K
c.2569G>A
1 paper
NM_005633.4
p.E857D
c.2571G>T
1 paper
NM_005633.4
p.V851L
c.2551G>T
1 paper
NM_005633.4
p.E857D
c.2571G>C
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