Varaico: Literature-Extracted Genetic Variants

Gene:AP4S1
Variant:p.R42Q

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.R42Q
c.125G>A
Surrounding Variants
15 papers
NM_001128126.3
p.R42*
c.124C>T
1 paper
NM_001128126.3
p.Q46fs
c.136_137fs
2 papers
NM_001128126.3
p.Q46fs
c.136_137fs
1 paper
NM_001128126.3
p.Q46_C47Splc
c.138+1G>A
1 paper
NM_001128126.3
p.Q46_C47Splc
c.138+2T>G
1 paper
NM_001128126.3
p.V35fs
c.103_104fs
1 paper
NM_001128126.3
p.L30H
c.89T>A
1 paper
NM_001128126.3
p.R28C
c.82C>T
1 paper
NM_001128126.3
p.S17fs
c.49_50fs
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
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."