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.D187N

c.559G>A

Surrounding Variants

1 paper

NM_012305.4

p.M161V

c.481A>G

1 paper

NM_012305.4

p.G158Splc

c.474-1076G>A

1 paper

NM_012305.4

p.T212N

c.635C>A

1 paper

NM_012305.4

p.L233L

c.699A>T

1 paper

NM_012305.4

p.S234C

c.700A>T

1 paper

NM_012305.4

p.E145V

c.434A>T

2 papers

NM_012305.4

p.V138M

c.412G>A

1 paper

NM_012305.4

p.G129S

c.385G>A

1 paper

NM_012305.4

p.D119E

c.357C>A

1 paper

NM_012305.4

p.D119E

c.357C>G

1 paper

NM_012305.4

p.I112I

c.336C>A

1 paper

NM_012305.4

p.Q92L

c.275A>T