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.Q560delFs

c.1680delC

Surrounding Variants

1 paper

NM_005633.4

p.E561A

c.1682A>C

1 paper

NM_005633.4

p.L554_M558delins

c.1660_1673delinsAA

1 paper

NM_005633.4

p.V556I

c.1666G>A

1 paper

NM_005633.4

p.M567I

c.1701G>T

1 paper

NM_005633.4

p.M567I

c.1701G>C

1 paper

NM_005633.4

p.M567I

c.1701G>A

1 paper

NM_005633.4

p.L554F

c.1660C>T

5 papers

NM_005633.4

p.L569V

c.1705C>G

39 papers

NM_005633.4

p.R552S

c.1656G>T

42 papers

NM_005633.4

p.R552S

c.1656G>C

7 papers

NM_005633.4

p.R552M

c.1655G>T

20 papers

NM_005633.4

p.R552T

c.1655G>C