Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.E93A

AP2S1

97 papers

RefSeq Summary

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a smal...

Pfam Domains

Clat_adaptor_saa 17–158UCSCClathrin adaptor complex small chain

Gene Aliases

HGNC Name

adaptor related protein complex 2 subunit sigma 1

HGNC Previous Symbols

CLAPS2; HHC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004069.6
p.E93A
c.278A>C
Surrounding Variants
1 paper
NM_004069.6
p.E93Q
c.277G>C
2 papers
NM_004069.6
p.V90V
c.270C>A
1 paper
NM_004069.6
p.D102H
c.304G>C
1 paper
NM_004069.6
p.Y111H
c.331T>C
2 papers
NM_004069.6
p.T112M
c.335C>T
2 papers
NM_004069.6
p.M117I
c.351G>T
2 papers
NM_004069.6
p.M117I
c.351G>C
2 papers
NM_004069.6
p.M117I
c.351G>A
1 paper
NM_004069.6
p.E122K
c.364G>A
1 paper
NM_004069.6
p.E122G
c.365A>G
1 paper
NM_004069.6
p.I123N
c.368T>A
3 papers
NM_004069.6
p.L135Q
c.404T>A
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