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

1–12 of 102 variants

4 papers

NM_017707.4

p.G767R

c.2299G>C

4 papers

NM_017707.4

p.G767R

c.2299G>A

3 papers

NM_017707.4

p.H93Q

c.279T>G

3 papers

NM_017707.4

p.H93Q

c.279T>A

3 papers

NM_017707.4

p.A430V

c.1289C>T

3 papers

NM_017707.4

p.T624M

c.1871C>T

2 papers

NM_017707.4

p.G201E

c.602G>A

2 papers

NM_017707.4

p.K206M

c.617A>T

2 papers

NM_017707.4

p.A400T

c.1198G>A

2 papers

NM_017707.4

p.A617T

c.1849G>A

2 papers

NM_017707.4

p.N652S

c.1955A>G

2 papers

NM_017707.4

p.C670Y

c.2009G>A