Varaico: Literature-Extracted Genetic Variants

ASAP3

81 papers

RefSeq Summary

This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this ...

Pfam Domains

BAR_3aa 32–261UCSCBAR domain of APPL family

PHaa 303–394UCSCPH domain

ArfGapaa 426–544UCSCPutative GTPase activating protein for Arf

Ank_2aa 590–681UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 3

HGNC Previous Symbol

DDEFL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017707.4

p.A617T

c.1849G>A

Surrounding Variants

3 papers

NM_017707.4

p.T624M

c.1871C>T

1 paper

NM_017707.4

p.I608I

c.1824C>T

1 paper

NM_017707.4

p.K595T

c.1784A>C

1 paper

NM_017707.4

p.E586A

c.1757A>C

2 papers

NM_017707.4

p.N652S

c.1955A>G

1 paper

NM_017707.4

p.E669D

c.2007G>C

2 papers

NM_017707.4

p.C670Y

c.2009G>A

1 paper

NM_017707.4

p.E672V

c.2015A>T

1 paper

NM_017707.4

p.Q678*

c.2032C>T

1 paper

NM_017707.4

p.Q678H

c.2034G>T

1 paper

NM_017707.4

p.Q678H

c.2034G>C

1 paper

NM_017707.4

p.A683T

c.2047G>A