Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.R293L

SLC40A1

526 papers

RefSeq Summary

The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [prov...

Pfam Domains

FPN1aa 22–531UCSCFerroportin1 (FPN1)

Gene Aliases

HGNC Name

solute carrier family 40 member 1

HGNC Previous Symbol

SLC11A3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014585.6
p.R293L
c.878G>T
Surrounding Variants
1 paper
NM_014585.6
p.R296*
c.886C>T
5 papers
NM_014585.6
p.R296Q
c.887G>A
1 paper
NM_014585.6
p.W299C
c.897G>T
1 paper
NM_014585.6
p.W299C
c.897G>C
1 paper
NM_014585.6
p.S301F
c.902C>T
1 paper
NM_014585.6
p.Y302F
c.905A>T
1 paper
NM_014585.6
p.Y303H
c.907T>C
2 papers
NM_014585.6
p.Y303F
c.908A>T
1 paper
NM_014585.6
p.P282R
c.845C>G
1 paper
NM_014585.6
p.E281*
c.841G>T
1 paper
NM_014585.6
p.P306S
c.916C>T
1 paper
NM_014585.6
p.E277Q
c.829G>C
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