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

2 papers

NM_005633.4

p.V883I

c.2647G>A

Surrounding Variants

1 paper

NM_005633.4

p.Y884H

c.2650T>C

2 papers

NM_005633.4

p.S880L

c.2639C>T

1 paper

NM_005633.4

p.H888Y

c.2662C>T

1 paper

NM_005633.4

p.H888L

c.2663A>T

1 paper

NM_005633.4

p.H888Q

c.2664C>G

1 paper

NM_005633.4

p.H888Q

c.2664C>A

1 paper

NM_005633.4

p.F890L

c.2668T>C

1 paper

NM_005633.4

p.F890L

c.2670T>G

1 paper

NM_005633.4

p.F890L

c.2670T>A

2 papers

NM_005633.4

p.E891Q

c.2671G>C

1 paper

NM_005633.4

p.V875L

c.2623G>C

2 papers

NM_005633.4

p.V875I

c.2623G>A