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

1 paper

NM_005633.4

p.I52M

c.156T>G

Surrounding Variants

7 papers

NM_005633.4

p.L53*

c.158T>A

1 paper

NM_005633.4

p.L51L

c.153A>G

6 papers

NM_005633.4

p.E49V

c.146A>T

1 paper

NM_005633.4

p.V48fs

c.142_143fs

1 paper

NM_005633.4

p.V48V

c.144T>A

6 papers

NM_005633.4

p.V48insFs

c.143_144insC

1 paper

NM_005633.4

p.V48A

c.143T>C

3 papers

NM_005633.4

p.N57Y

c.169A>T

1 paper

NM_005633.4

p.Y47F

c.140A>T

2 papers

NM_005633.4

p.M58V

c.172A>G

1 paper

NM_005633.4

p.Y47C

c.140A>G

1 paper

NM_005633.4

p.M58L

c.172A>C