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

4 papers

NM_001037131.3

p.V671I

c.2011G>A

Surrounding Variants

1 paper

NM_001037131.3

p.V688I

c.2062G>A

1 paper

NM_001037131.3

p.R652W

c.1954C>T

1 paper

NM_001037131.3

p.N638H

c.1912A>C

1 paper

NM_001037131.3

p.P632S

c.1894C>T

1 paper

NM_001037131.3

p.Q630K

c.1888C>A

1 paper

NM_001037131.3

p.T604M

c.1811C>T

1 paper

NM_001037131.3

p.S601P

c.1801T>C