Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.N144D

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
34 papers
NM_014585.6
p.N144D
c.430A>G
Surrounding Variants
1 paper
NM_014585.6
p.N144Y
c.430A>T
98 papers
NM_014585.6
p.N144H
c.430A>C
2 papers
NM_014585.6
p.N144S
c.431A>G
25 papers
NM_014585.6
p.N144T
c.431A>C
1 paper
NM_014585.6
p.S147T
c.440G>C
1 paper
NM_014585.6
p.T148A
c.442A>G
1 paper
NM_014585.6
p.T148I
c.443C>T
1 paper
NM_014585.6
p.A149delFs
c.445delC
1 paper
NM_014585.6
p.I136I
c.408C>A
12 papers
NM_014585.6
p.I152F
c.454A>T
1 paper
NM_014585.6
p.S131_L135delFs
c.391_403del13
2 papers
NM_014585.6
p.L135R
c.404T>G
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