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.G840V

c.2519G>T

Surrounding Variants

1 paper

NM_152432.4

p.Q820L

c.2459A>T

1 paper

NM_152432.4

p.T858I

c.2573C>T

1 paper

NM_152432.4

p.Y859C

c.2576A>G

2 papers

NM_152432.4

p.R819C

c.2455C>T