Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1

SLC31A1

85 papers

RefSeq Summary

The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by Re...

Pfam Domains

Ctraa 45–175UCSCCtr copper transporter family

Gene Aliases

HGNC Name

solute carrier family 31 member 1

HGNC Previous Symbol

COPT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
6 papers
NM_001859.4
p.H139R
c.416A>G
5 papers
NM_001859.4
p.R95H
c.284G>A
4 papers
NM_001859.4
p.P25A
c.73C>G
4 papers
NM_001859.4
p.R90G
c.268C>G
4 papers
NM_001859.4
p.R90*
c.268C>T
4 papers
NM_001859.4
p.V181L
c.541G>C
4 papers
NM_001859.4
p.V181L
c.541G>T
4 papers
NM_001859.4
p.C189S
c.565T>A
4 papers
NM_001859.4
p.C189S
c.566G>C
3 papers
NM_001859.4
p.L79P
c.236T>C
3 papers
NM_001859.4
p.M154L
c.460A>C
3 papers
NM_001859.4
p.M154L
c.460A>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."