Varaico: Literature-Extracted Genetic Variants

ARAP2

122 papers

RefSeq Summary

The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6...

Pfam Domains

SAM_1aa 8–67UCSCSAM domain (Sterile alpha motif)

PHaa 483–574UCSCPH domain

PHaa 588–679UCSCPH domain

ArfGapaa 685–803UCSCPutative GTPase activating protein for Arf

PHaa 893–1001UCSCPH domain

RhoGAPaa 1129–1277UCSCRhoGAP domain

Gene Aliases

HGNC Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2

HGNC Previous Symbol

CENTD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015230.4

p.M1611I

c.4833G>C

Surrounding Variants

1 paper

NM_015230.4

p.M1611I

c.4833G>T

1 paper

NM_015230.4

p.M1611I

c.4833G>A

1 paper

NM_015230.4

p.A1613S

c.4837G>T

1 paper

NM_015230.4

p.V1601M

c.4801G>A

1 paper

NM_015230.4

p.R1624*

c.4870C>T

1 paper

NM_015230.4

p.R1631W

c.4891C>T

1 paper

NM_015230.4

p.T1656T

c.4968A>G

1 paper

NM_015230.4

p.R1689W

c.5065C>T

1 paper

NM_015230.4

p.Q1701H

c.5103G>T

1 paper

NM_015230.4

p.Q1701H

c.5103G>C

1 paper

NM_015230.4

p.N1556T

c.4667A>C