Varaico: Literature-Extracted Genetic Variants

AP2A1

69 papers

RefSeq Summary

This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or...

Pfam Domains

Adaptin_Naa 29–591UCSCAdaptin N terminal region

Alpha_adaptinC2aa 751–858UCSCAdaptin C-terminal domain

Alpha_adaptin_Caa 863–977UCSCAlpha adaptin AP2, C-terminal domain

Gene Aliases

HGNC Name

adaptor related protein complex 2 subunit alpha 1

HGNC Previous Symbols

CLAPA1; ADTAA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130787.3

p.D159N

c.475G>A

Surrounding Variants

1 paper

NM_130787.3

p.S160T

c.479G>C

1 paper

NM_130787.3

p.S167C

c.499A>T

1 paper

NM_130787.3

p.P184H

c.551C>A

1 paper

NM_130787.3

p.D198A

c.593A>C

1 paper

NM_130787.3

p.H200Q

c.600C>A

1 paper

NM_130787.3

p.H200Q

c.600C>G

1 paper

NM_130787.3

p.D220H

c.658G>C

1 paper

NM_130787.3

p.V226L

c.676G>C

1 paper

NM_130787.3

p.R232H

c.695G>A

1 paper

NM_130787.3

p.S234R

c.700A>C

1 paper

NM_130787.3

p.S234R

c.702C>A

1 paper

NM_130787.3

p.S234R

c.702C>G