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

1–12 of 125 variants

7 papers

NM_001037131.3

p.T319_S320Splc

c.957+1G>A

4 papers

NM_001037131.3

p.P411L

c.1232C>T

4 papers

NM_001037131.3

p.V671I

c.2011G>A

3 papers

NM_001037131.3

p.G127fs

c.379_380fs

3 papers

NM_001037131.3

p.T379insFs

c.1135_1136ins4

3 papers

NM_001037131.3

p.H385Y

c.1153C>T

2 papers

NM_001037131.3

p.R90Q

c.269G>A

2 papers

NM_001037131.3

p.D224D

c.672C>T

2 papers

NM_001037131.3

p.D296G

c.887A>G

2 papers

NM_001037131.3

p.R313C

c.937C>T

2 papers

NM_001037131.3

p.A488T

c.1462G>A

2 papers

NM_001037131.3

p.S521P

c.1561T>C