Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.K240E

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
10 papers
NM_014585.6
p.K240E
c.718A>G
Surrounding Variants
2 papers
NM_014585.6
p.K240R
c.719A>G
1 paper
NM_014585.6
p.E243*
c.727G>T
1 paper
NM_014585.6
p.K236R
c.707A>G
1 paper
NM_014585.6
p.V235delFs
c.705delC
1 paper
NM_014585.6
p.E245*
c.733G>T
2 papers
NM_014585.6
p.E245A
c.734A>C
15 papers
NM_014585.6
p.L233P
c.698T>C
1 paper
NM_014585.6
p.L233L
c.697C>T
4 papers
NM_014585.6
p.L233V
c.697C>G
1 paper
NM_014585.6
p.K247R
c.740A>G
3 papers
NM_014585.6
p.A232D
c.695C>A
92 papers
NM_014585.6
p.Q248H
c.744G>T
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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."