Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.Y64N

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
44 papers
NM_014585.6
p.Y64N
c.190T>A
Surrounding Variants
4 papers
NM_014585.6
p.Y64D
c.190T>G
5 papers
NM_014585.6
p.Y64H
c.190T>C
1 paper
NM_014585.6
p.Y64S
c.191A>C
1 paper
NM_014585.6
p.V63G
c.188T>G
1 paper
NM_014585.6
p.V63A
c.188T>C
1 paper
NM_014585.6
p.Y64Y
c.192C>T
11 papers
NM_014585.6
p.V63I
c.187G>A
1 paper
NM_014585.6
p.T61A
c.181A>G
1 paper
NM_014585.6
p.V68M
c.202G>A
1 paper
NM_014585.6
p.V68A
c.203T>C
1 paper
NM_014585.6
p.V68delFs
c.203delA
12 papers
NM_014585.6
p.A69T
c.205G>A
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