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

1–12 of 79 variants

2 papers

NM_012305.4

p.K55delFs

c.163delA

2 papers

NM_012305.4

p.K57fs

c.169_170fs

2 papers

NM_012305.4

p.V138M

c.412G>A

2 papers

NM_012305.4

p.V308M

c.922G>A

2 papers

NM_012305.4

p.F310F

c.930C>T

2 papers

NM_012305.4

p.T623M

c.1868C>T

2 papers

NM_012305.4

p.S923G

c.2767A>G

1 paper

NM_012305.4

p.S18W

c.53C>G

1 paper

NM_012305.4

p.R21C

c.61C>T

1 paper

NM_012305.4

p.C23Splc

c.67+7079C>G

1 paper

NM_012305.4

p.C23Splc

c.67+7580G>A

1 paper

NM_012305.4

p.I33M

c.99A>G