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.F494L

c.1482T>A

Surrounding Variants

1 paper

NM_005633.4

p.F494L

c.1482T>G

2 papers

NM_005633.4

p.F494L

c.1480T>C

1 paper

NM_005633.4

p.K493E

c.1477A>G

14 papers

NM_005633.4

p.R497Q

c.1490G>A

6 papers

NM_005633.4

p.L490R

c.1469T>G

1 paper

NM_005633.4

p.R489H

c.1466G>A

1 paper

NM_005633.4

p.N502T

c.1505A>C

1 paper

NM_005633.4

p.D503H

c.1507G>C

1 paper

NM_005633.4

p.D503N

c.1507G>A

4 papers

NM_005633.4

p.K504E

c.1510A>G

1 paper

NM_005633.4

p.N485S

c.1454A>G

1 paper

NM_005633.4

p.A483V

c.1448C>T