Varaico: Literature-Extracted Genetic Variants

Gene:AP2A1
Variant:p.R21R

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.R21R
c.63G>C
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