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.T683A

c.2047A>G

Surrounding Variants

1 paper

NM_018482.4

p.V703ins1

c.2107_2108insAGG

1 paper

NM_018482.4

p.N708H

c.2122A>C

1 paper

NM_018482.4

p.D720N

c.2158G>A

1 paper

NM_018482.4

p.D720G

c.2159A>G

1 paper

NM_018482.4

p.L721L

c.2163G>T

2 papers

NM_018482.4

p.K724N

c.2172A>T

2 papers

NM_018482.4

p.K724N

c.2172A>C

1 paper

NM_018482.4

p.L623F

c.1867C>T

1 paper

NM_018482.4

p.V620I

c.1858G>A

1 paper

NM_018482.4

p.T611T

c.1833T>G

1 paper

NM_018482.4

p.L605F

c.1813C>T

1 paper

NM_018482.4

p.Q581K

c.1741C>A