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.L518S

c.1553T>C

Surrounding Variants

1 paper

NM_005633.4

p.L518ins2

c.1552_1553ins6

1 paper

NM_005633.4

p.I517M

c.1551T>G

1 paper

NM_005633.4

p.F514delFs

c.1541_1542delAA

1 paper

NM_005633.4

p.N522D

c.1564A>G

1 paper

NM_005633.4

p.V524F

c.1570G>T

1 paper

NM_005633.4

p.H512Y

c.1534C>T

1 paper

NM_005633.4

p.Y510S

c.1529A>C

1 paper

NM_005633.4

p.E509K

c.1525G>A

1 paper

NM_005633.4

p.S527del1

c.1579_1580delAGA

1 paper

NM_005633.4

p.N508S

c.1523A>G

1 paper

NM_005633.4

p.D506A

c.1517A>C

4 papers

NM_005633.4

p.K504E

c.1510A>G