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

2 papers

NM_003887.3

p.V69L

c.205G>C

Surrounding Variants

2 papers

NM_003887.3

p.V69L

c.205G>T

1 paper

NM_003887.3

p.A67A

c.201T>C

1 paper

NM_003887.3

p.N71I

c.212A>T

1 paper

NM_003887.3

p.Q74K

c.220C>A

1 paper

NM_003887.3

p.A78D

c.233C>A

1 paper

NM_003887.3

p.D90H

c.268G>C

1 paper

NM_003887.3

p.D90G

c.269A>G

1 paper

NM_003887.3

p.P92L

c.275C>T

1 paper

NM_003887.3

p.P92P

c.276A>T

1 paper

NM_003887.3

p.D93insFs

c.278_279insT

1 paper

NM_003887.3

p.L94F

c.282A>T

1 paper

NM_003887.3

p.G95E

c.284G>A