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.M1_R2insFs

c.3_4ins4

Surrounding Variants

1 paper

NM_018482.4

p.M1K

c.2T>A

1 paper

NM_018482.4

p.S4T

c.10T>A

1 paper

NM_018482.4

p.S6T

c.16T>A

1 paper

NM_018482.4

p.L8F

c.22C>T

1 paper

NM_018482.4

p.R20W

c.58C>T

1 paper

NM_018482.4

p.R20Q

c.59G>A