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.I542_Q545del0

c.1626_1634del9

Surrounding Variants

2 papers

NM_005633.4

p.R547W

c.1639C>T

2 papers

NM_005633.4

p.S548G

c.1642A>G

38 papers

NM_005633.4

p.S548R

c.1642A>C

1 paper

NM_005633.4

p.S543P

c.1627T>C

2 papers

NM_005633.4

p.S548N

c.1643G>A

38 papers

NM_005633.4

p.S548R

c.1644T>G

1 paper

NM_005633.4

p.S548S

c.1644T>C

38 papers

NM_005633.4

p.S548R

c.1644T>A

6 papers

NM_005633.4

p.T549K

c.1646C>A

1 paper

NM_005633.4

p.L541F

c.1623G>T

1 paper

NM_005633.4

p.L541F

c.1623G>C

3 papers

NM_005633.4

p.L550R

c.1649T>G