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

3 papers

NM_005633.4

p.N535S

c.1604A>G

Surrounding Variants

1 paper

NM_005633.4

p.N535D

c.1603A>G

1 paper

NM_005633.4

p.K534fs

c.1600_1601fs

1 paper

NM_005633.4

p.W537C

c.1611G>T

1 paper

NM_005633.4

p.W537C

c.1611G>C

1 paper

NM_005633.4

p.E533K

c.1597G>A

1 paper

NM_005633.4

p.L541F

c.1623G>T

1 paper

NM_005633.4

p.L541F

c.1623G>C

1 paper

NM_005633.4

p.S527del1

c.1579_1580delAGA

1 paper

NM_005633.4

p.S543P

c.1627T>C

1 paper

NM_005633.4

p.I542_Q545del0

c.1626_1634del9

1 paper

NM_005633.4

p.V524F

c.1570G>T

2 papers

NM_005633.4

p.R547W

c.1639C>T