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.N394S

c.1181A>G

Surrounding Variants

1 paper

NM_003887.3

p.V416I

c.1246G>A

1 paper

NM_003887.3

p.G432D

c.1295G>A

1 paper

NM_003887.3

p.D434fs

c.1300_1301fs

1 paper

NM_003887.3

p.D372_Y375delFs

c.1115_1125del11

3 papers

NM_003887.3

p.K348N

c.1044G>C

3 papers

NM_003887.3

p.K348N

c.1044G>T