Varaico: Literature-Extracted Genetic Variants

Gene:AP1S1
Variant:p.L90P

AP1S1

56 papers

RefSeq Summary

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Th...

Pfam Domains

Clat_adaptor_saa 1–142UCSCClathrin adaptor complex small chain

Gene Aliases

HGNC Name

adaptor related protein complex 1 subunit sigma 1

HGNC Previous Symbols

CLAPS1; EKV3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001283.5
p.L90P
c.269T>C
Surrounding Variants
1 paper
NM_001283.5
p.R86*
c.256C>T
1 paper
NM_001283.5
p.E77Q
c.229G>C
1 paper
NM_001283.5
p.C69C
c.207C>T
4 papers
NM_001283.5
p.Y62*
c.186T>A
5 papers
NM_001283.5
p.Y62*
c.186T>G
1 paper
NM_001283.5
p.Y62S
c.185A>C
7 papers
NM_001283.5
p.R61Splc
c.183-2A>G
1 paper
NM_001283.5
p.V39V
c.117C>G
1 paper
NM_001283.5
p.E34*
c.100G>T
1 paper
NM_001283.5
p.R28Q
c.83G>A
1 paper
NM_001283.5
p.R28P
c.83G>C
1 paper
NM_001283.5
p.L14L
c.40C>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."