Varaico: Literature-Extracted Genetic Variants

AP2A2

72 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction suppor...

Pfam Domains

Adaptin_Naa 29–590UCSCAdaptin N terminal region

Alpha_adaptinC2aa 713–821UCSCAdaptin C-terminal domain

Alpha_adaptin_Caa 825–939UCSCAlpha adaptin AP2, C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 2 subunit alpha 2

HGNC Previous Symbols

CLAPA2; ADTAB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012305.4

p.C23Splc

c.67+7580G>A

Surrounding Variants

1 paper

NM_012305.4

p.C23Splc

c.67+7079C>G

1 paper

NM_012305.4

p.R21C

c.61C>T

1 paper

NM_012305.4

p.S18W

c.53C>G