Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1
Variant:p.S39R

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
Selected Variant
1 paper
NM_001859.4
p.S39R
c.117C>G
Surrounding Variants
1 paper
NM_001859.4
p.S39R
c.117C>A
1 paper
NM_001859.4
p.S39I
c.116G>T
1 paper
NM_001859.4
p.S39R
c.115A>C
1 paper
NM_001859.4
p.D37D
c.111C>T
1 paper
NM_001859.4
p.D37A
c.110A>C
1 paper
NM_001859.4
p.M42I
c.126G>T
1 paper
NM_001859.4
p.T27A
c.79A>G
4 papers
NM_001859.4
p.P25A
c.73C>G
1 paper
NM_001859.4
p.N15D
c.43A>G
1 paper
NM_001859.4
p.S14Y
c.41C>A
1 paper
NM_001859.4
p.D13A
c.38A>C
1 paper
NM_001859.4
p.M12L
c.34A>C
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