Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.I80fs

AP4S1

81 papers

RefSeq Summary

This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the sec...

Pfam Domains

Clat_adaptor_saa 1–142UCSCClathrin adaptor complex small chain

Gene Aliases

HGNC Name

adaptor related protein complex 4 subunit sigma 1

HGNC Alias Symbols

CLA20; AP47B; SPG52

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128126.3
p.I80fs
c.238_239fs
Surrounding Variants
2 papers
NM_001128126.3
p.I80insFs
c.238_239insG
2 papers
NM_001128126.3
p.I80fs
c.238_239fs
2 papers
NM_001128126.3
p.A79fs
c.235_236fs
1 paper
NM_001128126.3
p.Y81C
c.242A>G
2 papers
NM_001128126.3
p.M78_A79insFs
c.234_235insG
1 paper
NM_001128126.3
p.E82*
c.244G>T
1 paper
NM_001128126.3
p.E77K
c.229G>A
2 papers
NM_001128126.3
p.E77*
c.229G>T
1 paper
NM_001128126.3
p.E89Q
c.265G>C
1 paper
NM_001128126.3
p.E93*
c.277G>T
24 papers
NM_001128126.3
p.R97*
c.289C>T
7 papers
NM_001128126.3
p.V98_S99Splc
c.294+1G>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."