Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.L166insFs

FTL

208 papers

RefSeq Summary

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

Pfam Domains

Ferritinaa 14–155UCSCFerritin-like domain

Gene Aliases

HGNC Name

ferritin light chain

HGNC Alias Symbols

MGC71996; NBIA3; FTL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000146.4
p.L166insFs
c.497_498dupTC
Surrounding Variants
1 paper
NM_000146.4
p.F167insFs
c.499_500insTC
2 papers
NM_000146.4
p.F167S
c.500T>C
1 paper
NM_000146.4
p.E168Q
c.502G>C
2 papers
NM_000146.4
p.E168*
c.502G>T
1 paper
NM_000146.4
p.L162R
c.485T>G
2 papers
NM_000146.4
p.L162fs
c.484_485fs
1 paper
NM_000146.4
p.G161_L162insFs
c.483_484ins14
1 paper
NM_000146.4
p.G161insFs
c.482_483insC
2 papers
NM_000146.4
p.G161fs
c.481_482fs
3 papers
NM_000146.4
p.L162_G163insFs
c.485_489dup5
14 papers
NM_000146.4
p.P158P
c.474G>A
1 paper
NM_000146.4
p.P158L
c.473C>T
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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."