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.R20R

c.60G>A

Surrounding Variants

1 paper

NM_005633.4

p.R20_G21ins4

c.60_61ins12

1 paper

NM_005633.4

p.G21A

c.62G>C

1 paper

NM_005633.4

p.G21_L22insFs

c.63_64insA

2 papers

NM_005633.4

p.L23R

c.68T>G

1 paper

NM_005633.4

p.V24M

c.70G>A

1 paper

NM_005633.4

p.P25S

c.73C>T

1 paper

NM_005633.4

p.A16P

c.46G>C

1 paper

NM_005633.4

p.P25L

c.74C>T

1 paper

NM_005633.4

p.N15K

c.45C>G

1 paper

NM_005633.4

p.N15K

c.45C>A

1 paper

NM_005633.4

p.A26V

c.77C>T

2 papers

NM_005633.4

p.E14K

c.40G>A