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

1–12 of 131 variants

7 papers

NM_003887.3

p.E748D

c.2244G>C

7 papers

NM_003887.3

p.E748D

c.2244G>T

3 papers

NM_003887.3

p.H15L

c.44A>T

3 papers

NM_003887.3

p.K348N

c.1044G>C

3 papers

NM_003887.3

p.K348N

c.1044G>T

2 papers

NM_003887.3

p.R34G

c.100C>G

2 papers

NM_003887.3

p.V69L

c.205G>C

2 papers

NM_003887.3

p.V69L

c.205G>T

2 papers

NM_003887.3

p.M173L

c.517A>C

2 papers

NM_003887.3

p.M173L

c.517A>T

2 papers

NM_003887.3

p.Y201C

c.602A>G

2 papers

NM_003887.3

p.A226V

c.677C>T