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.D224D

c.672C>T

Surrounding Variants

1 paper

NM_001037131.3

p.T213A

c.637A>G

1 paper

NM_001037131.3

p.T210M

c.629C>T

1 paper

NM_001037131.3

p.D192N

c.574G>A

1 paper

NM_001037131.3

p.D191N

c.571G>A

1 paper

NM_001037131.3

p.T154I

c.461C>T

1 paper

NM_001037131.3

p.M135L

c.403A>C

1 paper

NM_001037131.3

p.M135L

c.403A>T

1 paper

NM_001037131.3

p.G127A

c.380G>C

1 paper

NM_001037131.3

p.G127V

c.380G>T

3 papers

NM_001037131.3

p.G127fs

c.379_380fs

1 paper

NM_001037131.3

p.G127delFs

c.380_381delGC

1 paper

NM_001037131.3

p.D114V

c.341A>T