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.S12T

c.35G>C

Surrounding Variants

2 papers

NM_005633.4

p.S12I

c.35G>T

1 paper

NM_005633.4

p.S12N

c.35G>A

1 paper

NM_005633.4

p.S12delins

c.35_36delinsTA

2 papers

NM_005633.4

p.E13*

c.37G>T

1 paper

NM_005633.4

p.E13K

c.37G>A

2 papers

NM_005633.4

p.E14K

c.40G>A

1 paper

NM_005633.4

p.E9insFs

c.27dupG

1 paper

NM_005633.4

p.N15K

c.45C>G

1 paper

NM_005633.4

p.N15K

c.45C>A

1 paper

NM_005633.4

p.A16P

c.46G>C

1 paper

NM_005633.4

p.L6insFs

c.17_18insT

1 paper

NM_005633.4

p.Q5Q

c.15G>A