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

1 paper

NM_152432.4

p.W664*

c.1991G>A

Surrounding Variants

1 paper

NM_152432.4

p.W664*

c.1992G>A

1 paper

NM_152432.4

p.P668P

c.2004A>G

1 paper

NM_152432.4

p.G660R

c.1978G>A

1 paper

NM_152432.4

p.L637F

c.1909C>T

2 papers

NM_152432.4

p.V713I

c.2137G>A

1 paper

NM_152432.4

p.S728L

c.2183C>T

1 paper

NM_152432.4

p.S762F

c.2285C>T

1 paper

NM_152432.4

p.D773A

c.2318A>C

1 paper

NM_152432.4

p.S788*

c.2363C>A

1 paper

NM_152432.4

p.S788*

c.2363C>G

1 paper

NM_152432.4

p.A596S

c.1786G>T

2 papers

NM_152432.4

p.R819C

c.2455C>T