Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A8

SLC39A8

171 papers

RefSeq Summary

This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane...

Pfam Domains

Zipaa 126–451UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 8

HGNC Alias Symbols

BIGM103; ZIP8; ZIP-8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
78 papers
NM_001135146.2
p.A391T
c.1171G>A
27 papers
NM_001135146.2
p.G38R
c.112G>C
20 papers
NM_001135146.2
p.V33M
c.97G>A
19 papers
NM_001135146.2
p.S335T
c.1004G>C
19 papers
NM_001135146.2
p.I340N
c.1019T>A
15 papers
NM_001135146.2
p.G204C
c.610G>T
13 papers
NM_001135146.2
p.C113S
c.338G>C
12 papers
NM_001135146.2
p.C113S
c.337T>A
7 papers
NM_001135146.2
p.P249A
c.745C>G
6 papers
NM_001135146.2
p.Q68H
c.204G>C
4 papers
NM_001135146.2
p.A324T
c.970G>A
4 papers
NM_001135146.2
p.L449F
c.1345C>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."