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.A696S

c.2086G>T

Surrounding Variants

1 paper

NM_012305.4

p.A699T

c.2095G>A

1 paper

NM_012305.4

p.A692D

c.2075C>A

1 paper

NM_012305.4

p.A672insFs

c.2016dupG

1 paper

NM_012305.4

p.A672fs

c.2014_2015fs

1 paper

NM_012305.4

p.P669T

c.2005C>A

1 paper

NM_012305.4

p.P669A

c.2005C>G

1 paper

NM_012305.4

p.V710G

c.2129T>G

1 paper

NM_012305.4

p.T649I

c.1946C>T

1 paper

NM_012305.4

p.V624V

c.1872G>A

1 paper

NM_012305.4

p.T623T

c.1869G>A

2 papers

NM_012305.4

p.T623M

c.1868C>T

1 paper

NM_012305.4

p.L615I

c.1843C>A