Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.R489S

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
22 papers
NM_014585.6
p.R489S
c.1467A>C
Surrounding Variants
21 papers
NM_014585.6
p.R489S
c.1467A>T
11 papers
NM_014585.6
p.G490S
c.1468G>A
11 papers
NM_014585.6
p.R489K
c.1466G>A
3 papers
NM_014585.6
p.G490V
c.1469G>T
45 papers
NM_014585.6
p.G490D
c.1469G>A
1 paper
NM_014585.6
p.G490G
c.1470C>T
2 papers
NM_014585.6
p.I485_S487del3
c.1453_1460del9
2 papers
NM_014585.6
p.S487S
c.1461T>C
2 papers
NM_014585.6
p.V484_E486del3
c.1450_1457del9
1 paper
NM_014585.6
p.E486A
c.1457A>C
3 papers
NM_014585.6
p.G494D
c.1481G>A
1 paper
NM_014585.6
p.N500I
c.1499A>T
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