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

1 paper

NM_001040118.3

p.L15R

c.44T>G

Surrounding Variants

1 paper

NM_001040118.3

p.R16Q

c.47G>A

1 paper

NM_001040118.3

p.Y23F

c.68A>T

1 paper

NM_001040118.3

p.L26P

c.77T>C

1 paper

NM_001040118.3

p.L26L

c.78C>A

1 paper

NM_001040118.3

p.D43G

c.128A>G

1 paper

NM_001040118.3

p.G50R

c.148G>C

1 paper

NM_001040118.3

p.G50D

c.149G>A

1 paper

NM_001040118.3

p.R59H

c.176G>A

1 paper

NM_001040118.3

p.R66L

c.197G>T

1 paper

NM_001040118.3

p.P73A

c.217C>G

1 paper

NM_001040118.3

p.A74A

c.222A>C

1 paper

NM_001040118.3

p.T78P

c.232A>C