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.Q4R

c.11A>G

Surrounding Variants

1 paper

NM_003887.3

p.Q4Q

c.12G>A

1 paper

NM_003887.3

p.S6T

c.16T>A

1 paper

NM_003887.3

p.V11L

c.31G>C

3 papers

NM_003887.3

p.H15L

c.44A>T

1 paper

NM_003887.3

p.Y18F

c.53A>T

1 paper

NM_003887.3

p.P21P

c.63C>G

1 paper

NM_003887.3

p.F26V

c.76T>G

1 paper

NM_003887.3

p.A31P

c.91G>C

2 papers

NM_003887.3

p.R34G

c.100C>G

1 paper

NM_003887.3

p.A38E

c.113C>A

1 paper

NM_003887.3

p.A39S

c.115G>T

1 paper

NM_003887.3

p.E41K

c.121G>A