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.L390F

c.1170G>T

Surrounding Variants

1 paper

NM_152432.4

p.L390F

c.1170G>C

1 paper

NM_152432.4

p.Y389S

c.1166A>C

1 paper

NM_152432.4

p.I402V

c.1204A>G

1 paper

NM_152432.4

p.W448*

c.1343G>A

1 paper

NM_152432.4

p.W448L

c.1343G>T

1 paper

NM_152432.4

p.W448*

c.1344G>A

1 paper

NM_152432.4

p.N450fs

c.1348_1349fs

1 paper

NM_152432.4

p.N450Y

c.1348A>T

1 paper

NM_152432.4

p.D485G

c.1454A>G

1 paper

NM_152432.4

p.Q486K

c.1456C>A

1 paper

NM_152432.4

p.P379S

c.1135C>T

1 paper

NM_152432.4

p.Y376F

c.1127A>T