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.E841D

c.2523A>T

Surrounding Variants

1 paper

NM_005633.4

p.E841D

c.2523A>C

1 paper

NM_005633.4

p.N844H

c.2530A>C

1 paper

NM_005633.4

p.I839V

c.2515A>G

1 paper

NM_005633.4

p.L845L

c.2533T>C

1 paper

NM_005633.4

p.C838Y

c.2513G>A

1 paper

NM_005633.4

p.E846Q

c.2536G>C

74 papers

NM_005633.4

p.E846K

c.2536G>A

1 paper

NM_005633.4

p.E847K

c.2539G>A

1 paper

NM_005633.4

p.R848K

c.2543G>A

1 paper

NM_005633.4

p.V849I

c.2545G>A

1 paper

NM_005633.4

p.A850S

c.2548G>T

1 paper

NM_005633.4

p.V851L

c.2551G>T