Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.K253R

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
1 paper
NM_014585.6
p.K253R
c.758A>G
Surrounding Variants
2 papers
NM_014585.6
p.K253I
c.758A>T
1 paper
NM_014585.6
p.K253E
c.757A>G
1 paper
NM_014585.6
p.N250_L251ins4
c.748_752ins12
92 papers
NM_014585.6
p.Q248H
c.744G>T
90 papers
NM_014585.6
p.Q248H
c.744G>C
1 paper
NM_014585.6
p.K247R
c.740A>G
2 papers
NM_014585.6
p.E245A
c.734A>C
1 paper
NM_014585.6
p.E245*
c.733G>T
1 paper
NM_014585.6
p.E243*
c.727G>T
2 papers
NM_014585.6
p.K240R
c.719A>G
10 papers
NM_014585.6
p.K240E
c.718A>G
1 paper
NM_014585.6
p.K236R
c.707A>G
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