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.A582T

c.1744G>A

Surrounding Variants

1 paper

NM_001037131.3

p.V580I

c.1738G>A

2 papers

NM_001037131.3

p.C594S

c.1780T>A

2 papers

NM_001037131.3

p.C594S

c.1781G>C

1 paper

NM_001037131.3

p.W566*

c.1697G>A

1 paper

NM_001037131.3

p.G563D

c.1688G>A

1 paper

NM_001037131.3

p.L561F

c.1681C>T

1 paper

NM_001037131.3

p.S601P

c.1801T>C

1 paper

NM_001037131.3

p.T604M

c.1811C>T

1 paper

NM_001037131.3

p.Q630K

c.1888C>A