Varaico: Literature-Extracted Genetic Variants

ARHGAP42

63 papers

RefSeq Summary

This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded pro...

Pfam Domains

BAR_3aa 6–249UCSCBAR domain of APPL family

PHaa 266–371UCSCPH domain

RhoGAPaa 396–545UCSCRhoGAP domain

SH3_9aa 823–872UCSCVariant SH3 domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 42

HGNC Previous Symbol

TMEM133

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_152432.4

p.R243Q

c.728G>A

Surrounding Variants

1 paper

NM_152432.4

p.T267M

c.800C>T

1 paper

NM_152432.4

p.N231N

c.693C>T

1 paper

NM_152432.4

p.S301insFs

c.901_902insGT

1 paper

NM_152432.4

p.S301fs

c.901_902fs

2 papers

NM_152432.4

p.S307C

c.920C>G

1 paper

NM_152432.4

p.P319L

c.956C>T

1 paper

NM_152432.4

p.I328I

c.984C>T

1 paper

NM_152432.4

p.R338R

c.1014A>G

1 paper

NM_152432.4

p.V345I

c.1033G>A