Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.L222Q

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.L222Q
c.665T>A
Surrounding Variants
7 papers
NM_014585.6
p.V221V
c.663T>C
1 paper
NM_014585.6
p.V221I
c.661G>A
1 paper
NM_014585.6
p.V214_E219delFs
c.640_656del17
1 paper
NM_014585.6
p.E219D
c.657G>T
1 paper
NM_014585.6
p.E219D
c.657G>C
1 paper
NM_014585.6
p.K225R
c.674A>G
1 paper
NM_014585.6
p.E219A
c.656A>C
1 paper
NM_014585.6
p.Y227D
c.679T>G
1 paper
NM_014585.6
p.M216I
c.648G>T
2 papers
NM_014585.6
p.K229R
c.686A>G
4 papers
NM_014585.6
p.T230N
c.689C>A
3 papers
NM_014585.6
p.A232D
c.695C>A
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