Varaico: Literature-Extracted Genetic Variants

ARHGAP4

133 papers

RefSeq Summary

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous g...

Pfam Domains

FCHaa 31–119UCSCFes/CIP4, and EFC/F-BAR homology domain

RhoGAPaa 521–669UCSCRhoGAP domain

SH3_9aa 753–801UCSCVariant SH3 domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 4

HGNC Alias Symbols

KIAA0131; p115; RhoGAP4; SrGAP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001666.5

p.K220E

c.658A>G

Surrounding Variants

1 paper

NM_001666.5

p.K220R

c.659A>G

1 paper

NM_001666.5

p.L218F

c.652C>T

1 paper

NM_001666.5

p.S216N

c.647G>A

1 paper

NM_001666.5

p.R214H

c.641G>A

2 papers

NM_001666.5

p.R198W

c.592C>T

1 paper

NM_001666.5

p.K194E

c.580A>G

1 paper

NM_001666.5

p.R186R

c.558G>T

1 paper

NM_001666.5

p.E177A

c.530A>C

1 paper

NM_001666.5

p.A173S

c.517G>T

1 paper

NM_001666.5

p.K169E

c.505A>G

1 paper

NM_001666.5

p.L149M

c.445C>A

1 paper

NM_001666.5

p.K145_S146Splc

c.435+1G>A