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

7 papers

NM_005633.4

p.R552M

c.1655G>T

Surrounding Variants

20 papers

NM_005633.4

p.R552T

c.1655G>C

38 papers

NM_005633.4

p.R552K

c.1655G>A

39 papers

NM_005633.4

p.R552S

c.1656G>T

42 papers

NM_005633.4

p.R552S

c.1656G>C

5 papers

NM_005633.4

p.R552W

c.1654A>T

68 papers

NM_005633.4

p.R552G

c.1654A>G

1 paper

NM_005633.4

p.E551K

c.1651G>A

1 paper

NM_005633.4

p.L554F

c.1660C>T

3 papers

NM_005633.4

p.L550R

c.1649T>G

22 papers

NM_005633.4

p.L550P

c.1649T>C

6 papers

NM_005633.4

p.T549K

c.1646C>A

38 papers

NM_005633.4

p.S548R

c.1644T>G