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.K750R

c.2249A>G

Surrounding Variants

1 paper

NM_018482.4

p.S746P

c.2236T>C

1 paper

NM_018482.4

p.G755*

c.2263G>T

1 paper

NM_018482.4

p.P734S

c.2200C>T

1 paper

NM_018482.4

p.R732H

c.2195G>A

8 papers

NM_018482.4

p.I728V

c.2182A>G

1 paper

NM_018482.4

p.Q773Q

c.2319G>A

1 paper

NM_018482.4

p.P727S

c.2179C>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.L721L

c.2163G>T

1 paper

NM_018482.4

p.D720G

c.2159A>G

1 paper

NM_018482.4

p.D720N

c.2158G>A