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

2 papers

NM_001037131.3

p.A488T

c.1462G>A

Surrounding Variants

1 paper

NM_001037131.3

p.A488P

c.1462G>C

1 paper

NM_001037131.3

p.A484D

c.1451C>A

1 paper

NM_001037131.3

p.E483K

c.1447G>A

1 paper

NM_001037131.3

p.H469P

c.1406A>C

1 paper

NM_001037131.3

p.R464Q

c.1391G>A

1 paper

NM_001037131.3

p.R464*

c.1390C>T

1 paper

NM_001037131.3

p.T445I

c.1334C>T

1 paper

NM_001037131.3

p.G442G

c.1326G>A