Varaico: Literature-Extracted Genetic Variants

VAV3

131 papers

RefSeq Summary

This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements...

Pfam Domains

CHaa 1–121UCSCCalponin homology (CH) domain

RhoGEFaa 196–369UCSCRhoGEF domain

SOS1_NGEF_PHaa 397–500UCSCSOS1/NGEF-like PH domain

C1_1aa 514–566UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

SH3_2aa 596–658UCSCVariant SH3 domain

SH2aa 672–746UCSCSH2 domain

Gene Aliases

HGNC Name

vav guanine nucleotide exchange factor 3

HGNC Previous Names

vav 3 oncogene; vav 3 guanine nucleotide exchange factor

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006113.5

p.K299N

c.897A>C

Surrounding Variants

2 papers

NM_006113.5

p.K299N

c.897A>T

10 papers

NM_006113.5

p.T298S

c.892A>T

1 paper

NM_006113.5

p.T298A

c.892A>G

1 paper

NM_006113.5

p.K297R

c.890A>G

1 paper

NM_006113.5

p.C282Y

c.845G>A

1 paper

NM_006113.5

p.Y271C

c.812A>G

1 paper

NM_006113.5

p.L244I

c.730C>A

1 paper

NM_006113.5

p.R224insFs

c.670_671insCT

1 paper

NM_006113.5

p.K311R

c.932A>G

1 paper

NM_006113.5

p.K311T

c.932A>C

1 paper

NM_006113.5

p.A313A

c.939A>T

1 paper

NM_006113.5

p.R321R

c.961C>A