Varaico: Literature-Extracted Genetic Variants

ARAP1

108 papers

RefSeq Summary

The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol...

Pfam Domains

SAM_1aa 6–68UCSCSAM domain (Sterile alpha motif)

PHaa 83–174UCSCPH domain

ArfGapaa 290–408UCSCPutative GTPase activating protein for Arf

PHaa 499–604UCSCPH domain

RhoGAPaa 726–874UCSCRhoGAP domain

RAaa 927–1016UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1

HGNC Previous Symbol

CENTD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001040118.3

p.L741V

c.2221C>G

Surrounding Variants

1 paper

NM_001040118.3

p.P732A

c.2194C>G

1 paper

NM_001040118.3

p.M730L

c.2188A>T

1 paper

NM_001040118.3

p.M730L

c.2188A>C

1 paper

NM_001040118.3

p.D728G

c.2183A>G

1 paper

NM_001040118.3

p.R726P

c.2177G>C

1 paper

NM_001040118.3

p.A707V

c.2120C>T

1 paper

NM_001040118.3

p.P698L

c.2093C>T

1 paper

NM_001040118.3

p.A697P

c.2089G>C

1 paper

NM_001040118.3

p.A680A

c.2040G>A

1 paper

NM_001040118.3

p.A798T

c.2392G>A

1 paper

NM_001040118.3

p.E800D

c.2400G>T

1 paper

NM_001040118.3

p.E800D

c.2400G>C