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.A486V

c.1457C>T

Surrounding Variants

1 paper

NM_130787.3

p.R516C

c.1546C>T

1 paper

NM_130787.3

p.S518Splc

c.1553+8A>C

1 paper

NM_130787.3

p.T544T

c.1632C>A

1 paper

NM_130787.3

p.E607*

c.1819G>T

2 papers

NM_130787.3

p.A479V

c.1436C>T

1 paper

NM_130787.3

p.S626fs

c.1876_1877fs

1 paper

NM_130787.3

p.Y463C

c.1388A>G

1 paper

NM_130787.3

p.N641N

c.1923C>T

1 paper

NM_130787.3

p.G643S

c.1927G>A

1 paper

NM_130787.3

p.A453V

c.1358C>T

1 paper

NM_130787.3

p.I452V

c.1354A>G

1 paper

NM_130787.3

p.A436T

c.1306G>A