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

1–12 of 865 variants

74 papers

NM_005633.4

p.E846K

c.2536G>A

68 papers

NM_005633.4

p.R552G

c.1654A>G

42 papers

NM_005633.4

p.T266K

c.797C>A

42 papers

NM_005633.4

p.R552S

c.1656G>C

40 papers

NM_005633.4

p.M269R

c.806T>G

40 papers

NM_005633.4

p.M269T

c.806T>C

39 papers

NM_005633.4

p.R552S

c.1656G>T

38 papers

NM_005633.4

p.E433K

c.1297G>A

38 papers

NM_005633.4

p.S548R

c.1642A>C

38 papers

NM_005633.4

p.S548R

c.1644T>G

38 papers

NM_005633.4

p.S548R

c.1644T>A

38 papers

NM_005633.4

p.R552K

c.1655G>A