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.P157H

c.470C>A

Surrounding Variants

1 paper

NM_001040118.3

p.V158M

c.472G>A

1 paper

NM_001040118.3

p.P156L

c.467C>T

1 paper

NM_001040118.3

p.V155I

c.463G>A

1 paper

NM_001040118.3

p.P165S

c.493C>T

1 paper

NM_001040118.3

p.R166delFs

c.496delG

2 papers

NM_001040118.3

p.R166fs

c.496_497fs

1 paper

NM_001040118.3

p.A146D

c.437C>A

1 paper

NM_001040118.3

p.P132P

c.396A>C

1 paper

NM_001040118.3

p.P125R

c.374C>G

1 paper

NM_001040118.3

p.R120fs

c.358_359fs

1 paper

NM_001040118.3

p.P116_P118del0

c.346_354del9

1 paper

NM_001040118.3

p.I117T

c.350T>C