Varaico: Literature-Extracted Genetic Variants

ASAP1

204 papers

RefSeq Summary

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 a...

Pfam Domains

BAR_3aa 52–286UCSCBAR domain of APPL family

PHaa 325–416UCSCPH domain

ArfGapaa 439–556UCSCPutative GTPase activating protein for Arf

Ank_2aa 567–669UCSCAnkyrin repeats (3 copies)

SH3_9aa 1074–1125UCSCVariant SH3 domain

Gene Aliases

HGNC Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

HGNC Previous Symbol

DDEF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018482.4

p.K76E

c.226A>G

Surrounding Variants

1 paper

NM_018482.4

p.S77P

c.229T>C

1 paper

NM_018482.4

p.K75E

c.223A>G

1 paper

NM_018482.4

p.V78L

c.232G>T

1 paper

NM_018482.4

p.V78L

c.232G>C

1 paper

NM_018482.4

p.K79E

c.235A>G

2 papers

NM_018482.4

p.A80T

c.238G>A

1 paper

NM_018482.4

p.Q72E

c.214C>G

1 paper

NM_018482.4

p.Y82F

c.245A>T

1 paper

NM_018482.4

p.N83D

c.247A>G

1 paper

NM_018482.4

p.T69A

c.205A>G

1 paper

NM_018482.4

p.D67D

c.201T>C

1 paper

NM_018482.4

p.G85S

c.253G>A