Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.I180T

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
12 papers
NM_014585.6
p.I180T
c.539T>C
Surrounding Variants
4 papers
NM_014585.6
p.D181N
c.541G>A
4 papers
NM_014585.6
p.R179T
c.536G>C
21 papers
NM_014585.6
p.D181V
c.542A>T
21 papers
NM_014585.6
p.R178Q
c.533G>A
34 papers
NM_014585.6
p.Q182H
c.546G>T
34 papers
NM_014585.6
p.Q182H
c.546G>C
11 papers
NM_014585.6
p.R178G
c.532C>G
1 paper
NM_014585.6
p.R178R
c.532C>A
9 papers
NM_014585.6
p.N185D
c.553A>G
1 paper
NM_014585.6
p.A175V
c.524C>T
1 paper
NM_014585.6
p.A175D
c.524C>A
4 papers
NM_014585.6
p.N185T
c.554A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."