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.R409S

c.1227G>C

Surrounding Variants

1 paper

NM_001037131.3

p.R409S

c.1227G>T

4 papers

NM_001037131.3

p.P411L

c.1232C>T

1 paper

NM_001037131.3

p.I396T

c.1187T>C

1 paper

NM_001037131.3

p.Q389K

c.1165C>A

1 paper

NM_001037131.3

p.N440T

c.1319A>C