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

2 papers

NM_012305.4

p.F310F

c.930C>T

Surrounding Variants

1 paper

NM_012305.4

p.L309R

c.926T>G

2 papers

NM_012305.4

p.V308M

c.922G>A

1 paper

NM_012305.4

p.I316F

c.946A>T

1 paper

NM_012305.4

p.A304T

c.910G>A

1 paper

NM_012305.4

p.H318N

c.952C>A

1 paper

NM_012305.4

p.V275M

c.823G>A

1 paper

NM_012305.4

p.S258A

c.772T>G

1 paper

NM_012305.4

p.T248A

c.742A>G

1 paper

NM_012305.4

p.V237L

c.709G>T

1 paper

NM_012305.4

p.L326L

c.978C>G

1 paper

NM_012305.4

p.V327V

c.981C>G

1 paper

NM_012305.4

p.Y346D

c.1036T>G