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

2 papers

NM_130787.3

p.S122T

c.365G>C

Surrounding Variants

1 paper

NM_130787.3

p.A136D

c.407C>A

1 paper

NM_130787.3

p.N105_S106ins7

c.313_317ins21

1 paper

NM_130787.3

p.V100M

c.298G>A

1 paper

NM_130787.3

p.S99Y

c.296C>A

1 paper

NM_130787.3

p.A149T

c.445G>A

1 paper

NM_130787.3

p.D71G

c.212A>G

1 paper

NM_130787.3

p.D159N

c.475G>A

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