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.A818_G827del10

c.2452_2480del30

Surrounding Variants

1 paper

NM_001666.5

p.G827delFs

c.2479delC

1 paper

NM_001666.5

p.S824R

c.2472T>G

1 paper

NM_001666.5

p.S824R

c.2472T>A

1 paper

NM_001666.5

p.S824R

c.2470A>C

1 paper

NM_001666.5

p.G814E

c.2441G>A

1 paper

NM_001666.5

p.H797fs

c.2389_2390fs

1 paper

NM_001666.5

p.C840C

c.2520C>T

1 paper

NM_001666.5

p.N789N

c.2367C>T

1 paper

NM_001666.5

p.A845T

c.2533G>A

1 paper

NM_001666.5

p.R785L

c.2354G>T

1 paper

NM_001666.5

p.R785W

c.2353C>T

1 paper

NM_001666.5

p.R774Q

c.2321G>A