Varaico: Literature-Extracted Genetic Variants

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

4 papers

NM_005633.4

p.M269V

c.805A>G

Surrounding Variants

40 papers

NM_005633.4

p.M269R

c.806T>G

40 papers

NM_005633.4

p.M269T

c.806T>C

5 papers

NM_005633.4

p.M269K

c.806T>A

2 papers

NM_005633.4

p.M269I

c.807G>T

2 papers

NM_005633.4

p.M269I

c.807G>C

2 papers

NM_005633.4

p.M269I

c.807G>A

1 paper

NM_005633.4

p.E268A

c.803A>C

1 paper

NM_005633.4

p.M269del1

c.805_806delCAT

2 papers

NM_005633.4

p.V267G

c.800T>G

3 papers

NM_005633.4

p.V267E

c.800T>A

1 paper

NM_005633.4

p.T270delFs

c.808_809delGT

1 paper

NM_005633.4

p.D271A

c.812A>C