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.A483V

c.1448C>T

Surrounding Variants

6 papers

NM_005633.4

p.G482R

c.1444G>C

1 paper

NM_005633.4

p.P481L

c.1442C>T

1 paper

NM_005633.4

p.P481ins2

c.1442_1443ins6

1 paper

NM_005633.4

p.N485S

c.1454A>G

12 papers

NM_005633.4

p.P478L

c.1433C>T

12 papers

NM_005633.4

p.P478R

c.1433C>G

2 papers

NM_005633.4

p.P478S

c.1432C>T

6 papers

NM_005633.4

p.Q477H

c.1431G>T

6 papers

NM_005633.4

p.Q477H

c.1431G>C

1 paper

NM_005633.4

p.R489H

c.1466G>A

9 papers

NM_005633.4

p.Q477R

c.1430A>G

6 papers

NM_005633.4

p.L490R

c.1469T>G