Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.V531A

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
2 papers
NM_014585.6
p.V531A
c.1592T>C
Surrounding Variants
1 paper
NM_014585.6
p.V531_A532Fs
c.1591_1595delinsCAGGCAAGAGCACFs
1 paper
NM_014585.6
p.V524I
c.1570G>A
2 papers
NM_014585.6
p.R540*
c.1618C>T
1 paper
NM_014585.6
p.G521R
c.1561G>C
1 paper
NM_014585.6
p.A542V
c.1625C>T
1 paper
NM_014585.6
p.N544Y
c.1630A>T
1 paper
NM_014585.6
p.A514T
c.1540G>A
5 papers
NM_014585.6
p.V511I
c.1531G>A
1 paper
NM_014585.6
p.A552T
c.1654G>A
5 papers
NM_014585.6
p.F508del1
c.1522_1523delGAA
1 paper
NM_014585.6
p.F508S
c.1523T>C
1 paper
NM_014585.6
p.F508Y
c.1523T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."