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.G324C

c.970G>T

Surrounding Variants

2 papers

NM_018482.4

p.E326K

c.976G>A

1 paper

NM_018482.4

p.N320Y

c.958A>T

1 paper

NM_001247996.2

p.Q311H

c.933G>T

1 paper

NM_001247996.2

p.Q311H

c.933G>C

1 paper

NM_018482.4

p.Q316L

c.947A>T

2 papers

NM_018482.4

p.R308Q

c.923G>A

1 paper

NM_018482.4

p.E303_D304Splc

c.909+1032C>T

1 paper

NM_018482.4

p.E303_D304Splc

c.909+931A>G

1 paper

NM_018482.4

p.K350*

c.1048A>T

1 paper

NM_018482.4

p.I353F

c.1057A>T

1 paper

NM_018482.4

p.I353V

c.1057A>G

1 paper

NM_018482.4

p.I353L

c.1057A>C