Varaico: Literature-Extracted Genetic Variants

ARHGAP12

55 papers

RefSeq Summary

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by...

Pfam Domains

SH3_1aa 18–66UCSCSH3 domain

SH3-WW_linkeraa 71–266UCSCLinker region between SH3 and WW domains on ARHGAP12

WWaa 268–296UCSCWW domain

PHaa 465–575UCSCPH domain

RhoGAPaa 670–817UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 12

HGNC Alias Symbols

FLJ20737; FLJ10971; FLJ21785

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

2 papers

NM_018287.7

p.T73K

c.218C>A

2 papers

NM_018287.7

p.F442S

c.1325T>C

2 papers

NM_018287.7

p.S694T

c.2081G>C

1 paper

NM_018287.7

p.Q14P

c.41A>C

1 paper

NM_018287.7

p.E18E

c.54G>A

1 paper

NM_018287.7

p.E20K

c.58G>A

1 paper

NM_018287.7

p.Y21C

c.62A>G

1 paper

NM_018287.7

p.K31T

c.92A>C

1 paper

NM_018287.7

p.A66S

c.196G>T

1 paper

NM_018287.7

p.P80S

c.238C>T

1 paper

NM_018287.7

p.Q96P

c.287A>C

1 paper

NM_018287.7

p.H99R

c.296A>G