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.Q479R

c.1436A>G

Surrounding Variants

1 paper

NM_017707.4

p.S480L

c.1439C>T

1 paper

NM_017707.4

p.D484A

c.1451A>C

1 paper

NM_017707.4

p.S489F

c.1466C>T

1 paper

NM_017707.4

p.W451*

c.1353G>A

1 paper

NM_017707.4

p.W451*

c.1352G>A

1 paper

NM_017707.4

p.T450T

c.1350G>T

1 paper

NM_017707.4

p.G437W

c.1309G>T

1 paper

NM_017707.4

p.V432A

c.1295T>C

3 papers

NM_017707.4

p.A430V

c.1289C>T

1 paper

NM_017707.4

p.H422H

c.1266C>T

1 paper

NM_017707.4

p.P421L

c.1262C>T

1 paper

NM_001143778.2

p.H408L

c.1223A>T

NM_017707.4

p.H417L

c.1250A>T