Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.M446L

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.M446L
c.1336A>C
Surrounding Variants
1 paper
NM_005633.4
p.M446L
c.1336A>T
1 paper
NM_005633.4
p.M446T
c.1337T>C
2 papers
NM_005633.4
p.M446I
c.1338G>T
2 papers
NM_005633.4
p.M446I
c.1338G>C
2 papers
NM_005633.4
p.M446I
c.1338G>A
1 paper
NM_005633.4
p.F444del1
c.1330_1331delAAA
1 paper
NM_005633.4
p.L450V
c.1348C>G
1 paper
NM_005633.4
p.C441F
c.1322G>T
26 papers
NM_005633.4
p.C441Y
c.1322G>A
1 paper
NM_005633.4
p.C440insFs
c.1319dupG
1 paper
NM_005633.4
p.T451K
c.1352C>A
1 paper
NM_005633.4
p.C440S
c.1319G>C
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