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.R90Q

c.269G>A

Surrounding Variants

1 paper

NM_001037131.3

p.Y91C

c.272A>G

1 paper

NM_001037131.3

p.H89L

c.266A>T

1 paper

NM_001037131.3

p.L92V

c.274C>G

1 paper

NM_001037131.3

p.T93M

c.278C>T

1 paper

NM_001037131.3

p.T95A

c.283A>G

1 paper

NM_001037131.3

p.G83S

c.247G>A

1 paper

NM_001037131.3

p.S82G

c.244A>G

1 paper

NM_001037131.3

p.E99V

c.296A>T

1 paper

NM_001037131.3

p.P70P

c.210G>A

1 paper

NM_001037131.3

p.P70L

c.209C>T

1 paper

NM_001037131.3

p.T64M

c.191C>T

1 paper

NM_001037131.3

p.Q61H

c.183G>C