Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.V162del1

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
105 papers
NM_014585.6
p.V162del1
c.484_485delAAC
Surrounding Variants
1 paper
NM_014585.6
p.V162A
c.485T>C
1 paper
NM_014585.6
p.V161I
c.481G>A
3 papers
NM_014585.6
p.V160A
c.479T>C
1 paper
NM_014585.6
p.V160insFs
c.478_479insCC
14 papers
NM_014585.6
p.W158C
c.474G>T
14 papers
NM_014585.6
p.W158C
c.474G>C
4 papers
NM_014585.6
p.W158L
c.473G>T
42 papers
NM_014585.6
p.D157G
c.470A>G
15 papers
NM_014585.6
p.D157A
c.470A>C
7 papers
NM_014585.6
p.D157Y
c.469G>T
1 paper
NM_014585.6
p.D157H
c.469G>C
14 papers
NM_014585.6
p.D157N
c.469G>A
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