Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D473A

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
2 papers
NM_014585.6
p.D473A
c.1418A>C
Surrounding Variants
1 paper
NM_014585.6
p.W470S
c.1409G>C
2 papers
NM_014585.6
p.G468D
c.1403G>A
1 paper
NM_014585.6
p.Q478R
c.1433A>G
1 paper
NM_014585.6
p.G468C
c.1402G>T
13 papers
NM_014585.6
p.G468S
c.1402G>A
1 paper
NM_014585.6
p.E486A
c.1457A>C
2 papers
NM_014585.6
p.V484_E486del3
c.1450_1457del9
2 papers
NM_014585.6
p.S487S
c.1461T>C
2 papers
NM_014585.6
p.I485_S487del3
c.1453_1460del9
11 papers
NM_014585.6
p.R489K
c.1466G>A
21 papers
NM_014585.6
p.R489S
c.1467A>T
22 papers
NM_014585.6
p.R489S
c.1467A>C
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