Varaico: Literature-Extracted Genetic Variants

AGAP1

110 papers

RefSeq Summary

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the a...

Pfam Domains

Rasaa 73–231UCSCRas family

ArfGapaa 609–725UCSCPutative GTPase activating protein for Arf

Ank_2aa 736–830UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

HGNC Previous Symbol

CENTG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001037131.3

p.V255I

c.763G>A

Surrounding Variants

1 paper

NM_001037131.3

p.H252Y

c.754C>T

1 paper

NM_001037131.3

p.P250L

c.749C>T

1 paper

NM_001037131.3

p.N270T

c.809A>C

1 paper

NM_001037131.3

p.R294W

c.880C>T

2 papers

NM_001037131.3

p.D296G

c.887A>G

1 paper

NM_001037131.3

p.P298S

c.892C>T

1 paper

NM_001037131.3

p.R308H

c.923G>A

1 paper

NM_001037131.3

p.S311C

c.932C>G

2 papers

NM_001037131.3

p.R313C

c.937C>T

1 paper

NM_001037131.3

p.S315fs

c.943_944fs

1 paper

NM_001037131.3

p.T319fs

c.955_956fs

1 paper

NM_001037131.3

p.T319T

c.957C>A