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.K453N

c.1359G>T

Surrounding Variants

1 paper

NM_001040118.3

p.K453N

c.1359G>C

1 paper

NM_001040118.3

p.F452L

c.1356C>G

1 paper

NM_001040118.3

p.K455N

c.1365G>T

1 paper

NM_001040118.3

p.K455N

c.1365G>C

1 paper

NM_001040118.3

p.R450H

c.1349G>A

1 paper

NM_001040118.3

p.E448E

c.1344G>A

1 paper

NM_001135190.2

p.P196S

c.586C>T

1 paper

NM_001040118.3

p.T502T

c.1506G>A

1 paper

NM_001040118.3

p.A401V

c.1202C>T

1 paper

NM_001040118.3

p.K387K

c.1161G>A

1 paper

NM_001040118.3

p.V374G

c.1121T>G

1 paper

NM_001040118.3

p.K369fs

c.1105_1106fs