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.L417V

c.1249C>G

Surrounding Variants

1 paper

NM_005633.4

p.Q416*

c.1246C>T

1 paper

NM_005633.4

p.G414W

c.1240G>T

6 papers

NM_005633.4

p.M422V

c.1264A>G

3 papers

NM_005633.4

p.Q410Q

c.1230G>A

6 papers

NM_005633.4

p.E424K

c.1270G>A

1 paper

NM_005633.4

p.Q410K

c.1228C>A

1 paper

NM_005633.4

p.E424G

c.1271A>G

1 paper

NM_005633.4

p.S409T

c.1226G>C

1 paper

NM_005633.4

p.Q426E

c.1276C>G

1 paper

NM_005633.4

p.Q426K

c.1276C>A

7 papers

NM_005633.4

p.Q426P

c.1277A>C

2 papers

NM_005633.4

p.E424_K427del4

c.1270_1280del12