Varaico: Literature-Extracted Genetic Variants

ARHGAP9

147 papers

RefSeq Summary

This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP...

Pfam Domains

SH3_1aa 28–70UCSCSH3 domain

PHaa 323–435UCSCPH domain

RhoGAPaa 556–722UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 9

HGNC Alias Symbols

MGC1295; 10C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032496.4

p.I482F

c.1444A>T

Surrounding Variants

1 paper

NM_032496.4

p.L473R

c.1418T>G

1 paper

NM_032496.4

p.E461K

c.1381G>A

1 paper

NM_032496.4

p.R483L

c.1448G>T

1 paper

NM_032496.4

p.G484A

c.1451G>C

1 paper

NM_032496.4

p.P485L

c.1454C>T

2 papers

NM_032496.4

p.S450F

c.1349C>T

1 paper

NM_032496.4

p.P485delFs

c.1455delG

1 paper

NM_032496.4

p.L447P

c.1340T>C

1 paper

NM_032496.4

p.V493delFs

c.1479delC

1 paper

NM_032496.4

p.R494H

c.1481G>A

1 paper

NM_032496.4

p.R499R

c.1497G>A

1 paper

NM_032496.4

p.P505_P506del2

c.1513_1517del6