Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.S17fs

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.S17fs
c.49_50fs
Surrounding Variants
1 paper
NM_001128126.3
p.S17fs
c.49_50fs
5 papers
NM_001128126.3
p.S17insFs
c.49dupT
5 papers
NM_001128126.3
p.R15*
c.43C>T
1 paper
NM_001128126.3
p.Q11*
c.31C>T
1 paper
NM_001128126.3
p.K10R
c.29A>G
3 papers
NM_001128126.3
p.L6P
c.17T>C
1 paper
NM_001128126.3
p.R28C
c.82C>T
1 paper
NM_001128126.3
p.L30H
c.89T>A
1 paper
NM_001128126.3
p.I2insFs
c.4dupA
1 paper
NM_001128126.3
p.M1R
c.2T>G
1 paper
NM_001128126.3
p.V35fs
c.103_104fs
15 papers
NM_001128126.3
p.R42*
c.124C>T
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."