Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.G330del1

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
3 papers
NM_014585.6
p.G330del1
c.988_989delCCC
Surrounding Variants
1 paper
NM_014585.6
p.A332T
c.994G>A
1 paper
NM_014585.6
p.T328_T329delFs
c.982_985del4
11 papers
NM_014585.6
p.Y333H
c.997T>C
3 papers
NM_014585.6
p.Y333F
c.998A>T
1 paper
NM_014585.6
p.Q335*
c.1003C>T
1 paper
NM_014585.6
p.C326*
c.978C>A
9 papers
NM_014585.6
p.C326F
c.977G>T
57 papers
NM_014585.6
p.C326S
c.977G>C
52 papers
NM_014585.6
p.C326Y
c.977G>A
57 papers
NM_014585.6
p.C326S
c.976T>A
1 paper
NM_014585.6
p.G336*
c.1006G>T
2 papers
NM_014585.6
p.D325A
c.974A>C
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