Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.P282R

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.P282R
c.845C>G
Surrounding Variants
1 paper
NM_014585.6
p.E281*
c.841G>T
1 paper
NM_014585.6
p.E277Q
c.829G>C
1 paper
NM_014585.6
p.E277K
c.829G>A
1 paper
NM_014585.6
p.E275K
c.823G>A
1 paper
NM_014585.6
p.H274fs
c.820_821fs
1 paper
NM_014585.6
p.R293L
c.878G>T
20 papers
NM_014585.6
p.D270V
c.809A>T
2 papers
NM_014585.6
p.K269insFs
c.806_807insA
1 paper
NM_014585.6
p.K269delFs
c.806_807delTT
1 paper
NM_014585.6
p.K269R
c.806A>G
1 paper
NM_014585.6
p.R296*
c.886C>T
5 papers
NM_014585.6
p.R296Q
c.887G>A
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