Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.F105L

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.F105L
c.315T>A
Surrounding Variants
1 paper
NM_001128126.3
p.F105L
c.315T>G
1 paper
NM_001128126.3
p.F105S
c.314T>C
1 paper
NM_001128126.3
p.F105L
c.313T>C
1 paper
NM_001128126.3
p.D108G
c.323A>G
1 paper
NM_001128126.3
p.E116K
c.346G>A
1 paper
NM_001128126.3
p.E116D
c.348G>C
1 paper
NM_001128126.3
p.L119*
c.356T>A
1 paper
NM_001128126.3
p.L119*
c.356T>G
1 paper
NM_001128126.3
p.E125Q
c.373G>C
1 paper
NM_001128126.3
p.R128W
c.382A>T
1 paper
NM_001128126.3
p.D139H
c.415G>C
1 paper
NM_001128126.3
p.S144delFs
c.431delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."