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.G201E

c.602G>A

Surrounding Variants

1 paper

NM_017707.4

p.G201R

c.601G>C

2 papers

NM_017707.4

p.K206M

c.617A>T

1 paper

NM_017707.4

p.D210H

c.628G>C

1 paper

NM_017707.4

p.E195_Y196Splc

c.585+105C>T

1 paper

NM_017707.4

p.Q190L

c.569A>T

1 paper

NM_017707.4

p.R186W

c.556C>T

1 paper

NM_017707.4

p.A159V

c.476C>T

1 paper

NM_017707.4

p.G229S

c.685G>A

1 paper

NM_017707.4

p.A244S

c.730G>T

1 paper

NM_017707.4

p.A244E

c.731C>A

1 paper

NM_017707.4

p.L250F

c.748C>T

1 paper

NM_017707.4

p.A253S

c.757G>T