Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1
Variant:p.C189S

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
4 papers
NM_001859.4
p.C189S
c.566G>C
Surrounding Variants
4 papers
NM_001859.4
p.C189S
c.565T>A
1 paper
NM_001859.4
p.E187*
c.559G>T
1 paper
NM_001859.4
p.D184N
c.550G>A
1 paper
NM_001859.4
p.V181M
c.541G>A
4 papers
NM_001859.4
p.V181L
c.541G>C
4 papers
NM_001859.4
p.V181L
c.541G>T
1 paper
NM_001859.4
p.K179T
c.536A>C
1 paper
NM_001859.4
p.K178R
c.533A>G
1 paper
NM_001859.4
p.K178E
c.532A>G
1 paper
NM_001859.4
p.L174P
c.521T>C
1 paper
NM_001859.4
p.F173L
c.517T>C
1 paper
NM_001859.4
p.G169S
c.505G>A
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