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.W597delFs

c.1791delC

Surrounding Variants

1 paper

NM_001040118.3

p.R540C

c.1618C>T

1 paper

NM_001040118.3

p.E530G

c.1589A>G

1 paper

NM_001040118.3

p.A529A

c.1587T>A

1 paper

NM_001040118.3

p.A529V

c.1586C>T

1 paper

NM_001040118.3

p.Q519_A523delFs

c.1555_1568del14

1 paper

NM_001040118.3

p.E518_E522delFs

c.1552_1565del14

1 paper

NM_001040118.3

p.E518A

c.1553A>C

1 paper

NM_001040118.3

p.A626T

c.1876G>A

1 paper

NM_001040118.3

p.R637W

c.1909C>T

1 paper

NM_015242.5

p.R405C

c.1213C>T

1 paper

NM_001040118.3

p.R651C

c.1951C>T

1 paper

NM_001040118.3

p.R651S

c.1951C>A