Varaico: Literature-Extracted Genetic Variants

ASAP2

178 papers

RefSeq Summary

This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology re...

Pfam Domains

BAR_3aa 31–266UCSCBAR domain of APPL family

PHaa 306–397UCSCPH domain

ArfGapaa 421–539UCSCPutative GTPase activating protein for Arf

Ankaa 620–652UCSCAnkyrin repeat

SH3_9aa 951–1002UCSCVariant SH3 domain

Gene Aliases

HGNC Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 2

HGNC Previous Symbol

DDEF2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003887.3

p.A276T

c.826G>A

Surrounding Variants

1 paper

NM_003887.3

p.I267T

c.800T>C

1 paper

NM_003887.3

p.V238V

c.714G>A

2 papers

NM_003887.3

p.A226V

c.677C>T

1 paper

NM_003887.3

p.G213*

c.637G>T

2 papers

NM_003887.3

p.Y201C

c.602A>G

1 paper

NM_003887.3

p.Y293N

c.877T>A

1 paper

NM_003887.3

p.Q299L

c.896A>T

1 paper

NM_003887.3

p.R308W

c.922C>T

1 paper

NM_003887.3

p.Q324P

c.971A>C

1 paper

NM_003887.3

p.R326K

c.977G>A