Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.N76delFs

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.N76delFs
c.228delG
Surrounding Variants
1 paper
NM_004069.6
p.E82Q
c.244G>C
1 paper
NM_004069.6
p.C68S
c.203G>C
1 paper
NM_004069.6
p.C68S
c.202T>A
1 paper
NM_004069.6
p.N86K
c.258C>G
1 paper
NM_004069.6
p.N86K
c.258C>A
1 paper
NM_004069.6
p.L65H
c.194T>A
1 paper
NM_004069.6
p.G64G
c.192C>A
1 paper
NM_004069.6
p.G64D
c.191G>A
1 paper
NM_004069.6
p.A63delins
c.187_188delinsAA
1 paper
NM_004069.6
p.E89_V90Splc
c.267+5G>A
1 paper
NM_004069.6
p.R61H
c.182G>A
2 papers
NM_004069.6
p.R60L
c.179G>T
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