Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.R15G

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
3 papers
NM_004069.6
p.R15G
c.43C>G
Surrounding Variants
32 papers
NM_004069.6
p.R15C
c.43C>T
3 papers
NM_004069.6
p.R15S
c.43C>A
34 papers
NM_004069.6
p.R15L
c.44G>T
3 papers
NM_004069.6
p.R15P
c.44G>C
33 papers
NM_004069.6
p.R15H
c.44G>A
1 paper
NM_004069.6
p.R15delFs
c.44delC
1 paper
NM_004069.6
p.L16L
c.48G>T
1 paper
NM_004069.6
p.K18Q
c.52A>C
1 paper
NM_004069.6
p.F4_K18del0
c.12_53del42
1 paper
NM_004069.6
p.W19R
c.55T>C
2 papers
NM_004069.6
p.Y20N
c.58T>A
2 papers
NM_004069.6
p.R10W
c.28C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."