Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.S5C

FTH1

213 papers

RefSeq Summary

This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Varia...

Pfam Domains

Ferritinaa 18–159UCSCFerritin-like domain

Gene Aliases

HGNC Name

ferritin heavy chain 1

HGNC Previous Symbol

FTHL6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_002032.3
p.S5C
c.14C>G
Surrounding Variants
1 paper
NM_002032.3
p.S5T
c.13T>A
1 paper
NM_002032.3
p.A4A
c.12G>C
2 papers
NM_002032.3
p.A4A
c.12G>A
2 papers
NM_002032.3
p.T6T
c.18C>T
1 paper
NM_002032.3
p.S7T
c.19T>A
3 papers
NM_002032.3
p.S7W
c.20C>G
4 papers
NM_002032.3
p.T3A
c.7A>G
1 paper
NM_002032.3
p.T2S
c.4A>T
2 papers
NM_002032.3
p.V9M
c.25G>A
1 paper
NM_002032.3
p.V9A
c.26T>C
1 paper
NM_002032.3
p.V9E
c.26T>A
2 papers
NM_002032.3
p.Q8_V9del0
c.22_27del6
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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."