Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.V74delFs

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.V74delFs
c.220delC
Surrounding Variants
1 paper
NM_014585.6
p.L75L
c.223C>T
2 papers
NM_014585.6
p.V72D
c.215T>A
11 papers
NM_014585.6
p.V72F
c.214G>T
1 paper
NM_014585.6
p.A77T
c.229G>A
6 papers
NM_014585.6
p.S71F
c.212C>T
95 papers
NM_014585.6
p.A77D
c.230C>A
3 papers
NM_014585.6
p.A69V
c.206C>T
12 papers
NM_014585.6
p.A69T
c.205G>A
1 paper
NM_014585.6
p.I79I
c.237C>T
28 papers
NM_014585.6
p.G80S
c.238G>A
1 paper
NM_014585.6
p.V68delFs
c.203delA
1 paper
NM_014585.6
p.V68A
c.203T>C
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