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.G597R

c.1789G>A

Surrounding Variants

2 papers

NM_005633.4

p.G597A

c.1790G>C

1 paper

NM_005633.4

p.A596T

c.1786G>A

1 paper

NM_005633.4

p.I598T

c.1793T>C

1 paper

NM_005633.4

p.K595M

c.1784A>T

1 paper

NM_005633.4

p.I600V

c.1798A>G

1 paper

NM_005633.4

p.I600M

c.1800T>G

1 paper

NM_005633.4

p.I600I

c.1800T>A

1 paper

NM_005633.4

p.I601F

c.1801A>T

1 paper

NM_005633.4

p.M592V

c.1774A>G

2 papers

NM_005633.4

p.N591S

c.1772A>G

1 paper

NM_005633.4

p.N591H

c.1771A>C

3 papers

NM_005633.4

p.G604V

c.1811G>T