Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1
Variant:p.M154L

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
3 papers
NM_001859.4
p.M154L
c.460A>C
Surrounding Variants
3 papers
NM_001859.4
p.M154L
c.460A>T
1 paper
NM_001859.4
p.M154I
c.462G>A
1 paper
NM_001859.4
p.M154I
c.462G>C
1 paper
NM_001859.4
p.M154I
c.462G>T
1 paper
NM_001859.4
p.T155A
c.463A>G
1 paper
NM_001859.4
p.L151F
c.451C>T
1 paper
NM_001859.4
p.M150I
c.450G>A
1 paper
NM_001859.4
p.M150I
c.450G>C
1 paper
NM_001859.4
p.M150I
c.450G>T
2 papers
NM_001859.4
p.M150L
c.448A>C
2 papers
NM_001859.4
p.M150L
c.448A>T
1 paper
NM_001859.4
p.Y159F
c.476A>T
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