Varaico: Literature-Extracted Genetic Variants

ARHGAP5

134 papers

RefSeq Summary

Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different...

Pfam Domains

RhoGAP-FF1aa 260–338UCSCp190-A and -B Rho GAPs FF domain

FF_RHG35_4thaa 429–483UCSCRho GTPase-activating protein 35-like, FF domain

FFaa 485–545UCSCFF domain

RhoGAP_pG1_pG2aa 556–1264UCSCp190RhoGAP, pG1 and pG2 domains

RhoGAPaa 1275–1422UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 5

HGNC Previous Symbol

GFI2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001030055.2

p.M691L

c.2071A>C

Surrounding Variants

1 paper

NM_001030055.2

p.M691L

c.2071A>T

1 paper

NM_001030055.2

p.Q684H

c.2052G>C

1 paper

NM_001030055.2

p.Q684H

c.2052G>T

1 paper

NM_001030055.2

p.G672W

c.2014G>T

1 paper

NM_001030055.2

p.L711V

c.2131C>G

1 paper

NM_001030055.2

p.Q719*

c.2155C>T

1 paper

NM_001030055.2

p.V661fs

c.1981_1982fs

1 paper

NM_001030055.2

p.A722P

c.2164G>C

1 paper

NM_001030055.2

p.K654N

c.1962A>C

1 paper

NM_001030055.2

p.K654N

c.1962A>T

1 paper

NM_001030055.2

p.A651T

c.1951G>A

1 paper

NM_001030055.2

p.A651P

c.1951G>C