Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1
Variant:p.E84Q

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
2 papers
NM_001859.4
p.E84Q
c.250G>C
Surrounding Variants
1 paper
NM_001859.4
p.Y83S
c.248A>C
1 paper
NM_001859.4
p.Y83F
c.248A>T
1 paper
NM_001859.4
p.G85R
c.253G>A
1 paper
NM_001859.4
p.G85R
c.253G>C
1 paper
NM_001859.4
p.F82L
c.246C>A
1 paper
NM_001859.4
p.G85V
c.254G>T
1 paper
NM_001859.4
p.M81I
c.243G>A
1 paper
NM_001859.4
p.M81I
c.243G>C
1 paper
NM_001859.4
p.M81I
c.243G>T
1 paper
NM_001859.4
p.M81V
c.241A>G
3 papers
NM_001859.4
p.L79P
c.236T>C
1 paper
NM_001859.4
p.R90R
c.268C>A
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