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

1 paper

NM_017707.4

p.V59L

c.175G>T

Surrounding Variants

1 paper

NM_017707.4

p.V59L

c.175G>C

1 paper

NM_017707.4

p.A58V

c.173C>T

1 paper

NM_017707.4

p.R60W

c.178C>T

1 paper

NM_017707.4

p.G66S

c.196G>A

1 paper

NM_017707.4

p.N72K

c.216T>G

1 paper

NM_017707.4

p.N72K

c.216T>A

1 paper

NM_017707.4

p.H93Y

c.277C>T

3 papers

NM_017707.4

p.H93Q

c.279T>G

3 papers

NM_017707.4

p.H93Q

c.279T>A

1 paper

NM_017707.4

p.L120F

c.360G>T

1 paper

NM_017707.4

p.L120F

c.360G>C

1 paper

NM_017707.4

p.N121D

c.361A>G