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.R1210W

c.3628C>T

Surrounding Variants

1 paper

NM_001040118.3

p.E1129K

c.3385G>A

1 paper

NM_001040118.3

p.Q1100P

c.3299A>C

1 paper

NM_001040118.3

p.Q1100K

c.3298C>A

1 paper

NM_001040118.3

p.T1098T

c.3294G>A

1 paper

NM_001040118.3

p.A1084V

c.3251C>T

1 paper

NM_001040118.3

p.T1081T

c.3243A>G

1 paper

NM_001040118.3

p.P1075A

c.3223C>G

1 paper

NM_001040118.3

p.K1277M

c.3830A>T

1 paper

NM_001040118.3

p.K1315R

c.3944A>G

1 paper

NM_001040118.3

p.E1053D

c.3159G>T

1 paper

NM_001040118.3

p.E1053D

c.3159G>C

4 papers

NM_001040118.3

p.Q1047E

c.3139C>G