Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D39E

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.D39E
c.117T>A
Surrounding Variants
1 paper
NM_014585.6
p.D39E
c.117T>G
2 papers
NM_014585.6
p.D39D
c.117T>C
1 paper
NM_014585.6
p.R40G
c.118C>G
4 papers
NM_014585.6
p.D39A
c.116A>C
2 papers
NM_014585.6
p.R40Q
c.119G>A
1 paper
NM_014585.6
p.G38R
c.112G>C
1 paper
NM_014585.6
p.G38R
c.112G>A
1 paper
NM_014585.6
p.W42_H43delFs
c.126_127delGC
3 papers
NM_014585.6
p.A45E
c.134C>A
2 papers
NM_014585.6
p.S47F
c.140C>T
1 paper
NM_014585.6
p.G55*
c.163G>T
1 paper
NM_014585.6
p.G55R
c.163G>A
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