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

1–12 of 66 variants

2 papers

NM_152432.4

p.F69L

c.205T>C

2 papers

NM_152432.4

p.F69L

c.207T>A

2 papers

NM_152432.4

p.F69L

c.207T>G

2 papers

NM_152432.4

p.R243Q

c.728G>A

2 papers

NM_152432.4

p.S307C

c.920C>G

2 papers

NM_152432.4

p.V713I

c.2137G>A

2 papers

NM_152432.4

p.R819C

c.2455C>T

2 papers

NM_152432.4

p.G840V

c.2519G>T

1 paper

NM_152432.4

p.L39delFs

c.117delC

1 paper

NM_152432.4

p.L45R

c.134T>G

1 paper

NM_152432.4

p.G48A

c.143G>C

1 paper

NM_152432.4

p.R102Q

c.305G>A