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

3 papers

NM_001037131.3

p.H385Y

c.1153C>T

Surrounding Variants

1 paper

NM_001037131.3

p.Y380_H381del2

c.1138_1142del6

3 papers

NM_001037131.3

p.T379insFs

c.1135_1136ins4

1 paper

NM_001037131.3

p.V377M

c.1129G>A

1 paper

NM_001037131.3

p.W365R

c.1093T>A

1 paper

NM_001037131.3

p.W365R

c.1093T>C

1 paper

NM_001037131.3

p.L361F

c.1083G>C

1 paper

NM_001037131.3

p.L361F

c.1083G>T

1 paper

NM_001037131.3

p.R356Q

c.1067G>A

1 paper

NM_001037131.3

p.K355N

c.1065G>C

1 paper

NM_001037131.3

p.K355N

c.1065G>T

1 paper

NM_001037131.3

p.L353Q

c.1058T>A

1 paper

NM_001037131.3

p.Q350_G351Splc

c.1051-2A>T