Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.L613V

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
6 papers
NM_005633.4
p.L613V
c.1837C>G
Surrounding Variants
1 paper
NM_005633.4
p.T614M
c.1841C>T
1 paper
NM_005633.4
p.Y615C
c.1844A>G
7 papers
NM_005633.4
p.I610T
c.1829T>C
1 paper
NM_005633.4
p.M617V
c.1849A>G
1 paper
NM_005633.4
p.M617T
c.1850T>C
1 paper
NM_005633.4
p.M617I
c.1851G>T
1 paper
NM_005633.4
p.M617I
c.1851G>C
1 paper
NM_005633.4
p.M617I
c.1851G>A
2 papers
NM_005633.4
p.I607T
c.1820T>C
1 paper
NM_005633.4
p.T605N
c.1814C>A
3 papers
NM_005633.4
p.G604V
c.1811G>T
1 paper
NM_005633.4
p.G604A
c.1811G>C
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