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.V865F

c.2593G>T

Surrounding Variants

1 paper

NM_012305.4

p.Q852L

c.2555A>T

1 paper

NM_012305.4

p.K869_I870Splc

c.2608-86G>A

1 paper

NM_012305.4

p.Q813K

c.2437C>A

1 paper

NM_012305.4

p.A876V

c.2627C>T

1 paper

NM_012305.4

p.A886T

c.2656G>A

2 papers

NM_012305.4

p.S923G

c.2767A>G

1 paper

NM_012305.4

p.D795D

c.2385C>T

1 paper

NM_012305.4

p.S794S

c.2382C>T

1 paper

NM_012305.4

p.G781fs

c.2341_2342fs

1 paper

NM_012305.4

p.N766Splc

c.2297-4G>A

1 paper

NM_012305.4

p.V710G

c.2129T>G

1 paper

NM_012305.4

p.A699T

c.2095G>A