Varaico: Literature-Extracted Genetic Variants

VAV1

159 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

CAMSAP_CHaa 18–103UCSCCAMSAP CH domain

RhoGEFaa 198–371UCSCRhoGEF domain

PHaa 403–504UCSCPH domain

C1_1aa 516–568UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

SH3_1aa 615–652UCSCSH3 domain

Gene Aliases

HGNC Name

vav guanine nucleotide exchange factor 1

HGNC Previous Names

vav 1 oncogene; vav 1 guanine nucleotide exchange factor

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_005428.4

p.L177R

c.530T>G

Surrounding Variants

4 papers

NM_005428.4

p.E175V

c.524A>T

1 paper

NM_005428.4

p.R179H

c.536G>A

2 papers

NM_005428.4

p.E175K

c.523G>A

9 papers

NM_005428.4

p.Y174C

c.521A>G

1 paper

NM_005428.4

p.Y174F

c.521A>T

1 paper

NM_005428.4

p.I173_L177del0

c.518_529del12

1 paper

NM_005428.4

p.I173_L177del5

c.517_530del15

1 paper

NM_005428.4

p.G170C

c.508G>T

1 paper

NM_005428.4

p.P186L

c.557C>T

1 paper

NM_005428.4

p.E167K

c.499G>A

1 paper

NM_005428.4

p.E167*

c.499G>T

1 paper

NM_005428.4

p.N165N

c.495T>C