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.P720S

c.2158C>T

Surrounding Variants

1 paper

NM_003887.3

p.D718V

c.2153A>T

1 paper

NM_003887.3

p.R716W

c.2146C>T

1 paper

NM_003887.3

p.N729S

c.2186A>G

1 paper

NM_003887.3

p.Q710_P711Splc

c.2131-4G>A

7 papers

NM_003887.3

p.E748D

c.2244G>C

7 papers

NM_003887.3

p.E748D

c.2244G>T

1 paper

NM_003887.3

p.M754V

c.2260A>G

1 paper

NM_003887.3

p.Y763C

c.2288A>G

1 paper

NM_003887.3

p.A765T

c.2293G>A

1 paper

NM_003887.3

p.S780R

c.2338A>C

1 paper

NM_003887.3

p.S780R

c.2340C>A

1 paper

NM_003887.3

p.S780R

c.2340C>G