Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.S338R

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
18 papers
NM_014585.6
p.S338R
c.1014T>A
Surrounding Variants
18 papers
NM_014585.6
p.S338R
c.1014T>G
1 paper
NM_014585.6
p.S338S
c.1014T>C
1 paper
NM_014585.6
p.G339D
c.1016G>A
18 papers
NM_014585.6
p.S338R
c.1012A>C
1 paper
NM_014585.6
p.G336*
c.1006G>T
1 paper
NM_014585.6
p.Q335*
c.1003C>T
3 papers
NM_014585.6
p.Y333F
c.998A>T
11 papers
NM_014585.6
p.Y333H
c.997T>C
1 paper
NM_014585.6
p.A332T
c.994G>A
6 papers
NM_014585.6
p.L345F
c.1035G>T
6 papers
NM_014585.6
p.L345F
c.1035G>C
3 papers
NM_014585.6
p.G330del1
c.988_989delCCC
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