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.L115_I116Splc

c.346-1G>A

Surrounding Variants

1 paper

NM_003887.3

p.F125Y

c.374T>A

1 paper

NM_003887.3

p.K132K

c.396G>A

1 paper

NM_003887.3

p.D134G

c.401A>G

1 paper

NM_003887.3

p.I157T

c.470T>C

1 paper

NM_003887.3

p.H171L

c.512A>T

2 papers

NM_003887.3

p.M173L

c.517A>C

1 paper

NM_003887.3

p.M173V

c.517A>G

2 papers

NM_003887.3

p.M173L

c.517A>T

1 paper

NM_003887.3

p.A181V

c.542C>T

1 paper

NM_003887.3

p.E186E

c.558G>A

1 paper

NM_003887.3

p.F194I

c.580T>A

2 papers

NM_003887.3

p.Y201C

c.602A>G