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

15 papers

NM_005633.4

p.I437T

c.1310T>C

Surrounding Variants

2 papers

NM_005633.4

p.I437N

c.1310T>A

1 paper

NM_005633.4

p.I437L

c.1309A>C

1 paper

NM_005633.4

p.Q439L

c.1316A>T

1 paper

NM_005633.4

p.Q439H

c.1317G>T

1 paper

NM_005633.4

p.Q439H

c.1317G>C

1 paper

NM_005633.4

p.C440S

c.1318T>A

3 papers

NM_005633.4

p.G434V

c.1301G>T

1 paper

NM_005633.4

p.C440S

c.1319G>C

3 papers

NM_005633.4

p.G434E

c.1301G>A

2 papers

NM_005633.4

p.G434delins

c.1300_1301delinsAA

1 paper

NM_005633.4

p.E433del1

c.1297_1298delCTC

1 paper

NM_005633.4

p.C440insFs

c.1319dupG