Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.T372A

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.T372A
c.1114A>G
Surrounding Variants
5 papers
NM_014585.6
p.R371Q
c.1112G>A
6 papers
NM_014585.6
p.R371W
c.1111C>T
1 paper
NM_014585.6
p.G373D
c.1118G>A
1 paper
NM_014585.6
p.I375I
c.1125C>T
2 papers
NM_014585.6
p.C367*
c.1101T>A
1 paper
NM_014585.6
p.A379_Q380insFs
c.1137_1138insT
1 paper
NM_014585.6
p.W362C
c.1086G>T
1 paper
NM_014585.6
p.W362C
c.1086G>C
1 paper
NM_014585.6
p.L384V
c.1150T>G
2 papers
NM_014585.6
p.L384M
c.1150T>A
1 paper
NM_014585.6
p.L384W
c.1151T>G
1 paper
NM_014585.6
p.L384F
c.1152G>T
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