Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D84E

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
6 papers
NM_014585.6
p.D84E
c.252C>A
Surrounding Variants
6 papers
NM_014585.6
p.D84E
c.252C>G
1 paper
NM_014585.6
p.D84A
c.251A>C
1 paper
NM_014585.6
p.D84insFs
c.251_252ins4
1 paper
NM_014585.6
p.D84insFs
c.250_251ins4
1 paper
NM_014585.6
p.N86I
c.257A>T
1 paper
NM_014585.6
p.W82_V83ins8
c.244_248ins24
16 papers
NM_014585.6
p.R88G
c.262A>G
1 paper
NM_014585.6
p.R88_L89insC
c.262_266ins3
3 papers
NM_014585.6
p.R88I
c.263G>T
14 papers
NM_014585.6
p.R88T
c.263G>C
12 papers
NM_014585.6
p.G80V
c.239G>T
1 paper
NM_014585.6
p.G80D
c.239G>A
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