Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1

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
1–12 of 355 variants
105 papers
NM_014585.6
p.V162del1
c.484_485delAAC
98 papers
NM_014585.6
p.N144H
c.430A>C
95 papers
NM_014585.6
p.A77D
c.230C>A
92 papers
NM_014585.6
p.Q248H
c.744G>T
90 papers
NM_014585.6
p.Q248H
c.744G>C
57 papers
NM_014585.6
p.C326S
c.976T>A
57 papers
NM_014585.6
p.C326S
c.977G>C
52 papers
NM_014585.6
p.C326Y
c.977G>A
45 papers
NM_014585.6
p.G490D
c.1469G>A
44 papers
NM_014585.6
p.Y64N
c.190T>A
42 papers
NM_014585.6
p.D157G
c.470A>G
34 papers
NM_014585.6
p.N144D
c.430A>G
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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."