Varaico: Literature-Extracted Genetic Variants

Gene:FXN

FXN

392 papers

RefSeq Summary

This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trin...

Pfam Domains

Frataxin_Cyayaa 88–196UCSCFrataxin-like domain

Gene Aliases

HGNC Name

frataxin

HGNC Previous Symbol

FRDA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 425 variants
107 papers
NM_000144.5
p.G130V
c.389G>T
70 papers
NM_000144.5
p.I154F
c.460A>T
50 papers
NM_000144.5
p.W155R
c.463T>A
50 papers
NM_000144.5
p.W155R
c.463T>C
40 papers
NM_000144.5
p.R165C
c.493C>T
37 papers
NM_000144.5
p.D122Y
c.364G>T
32 papers
NM_000144.5
p.L106S
c.317T>C
32 papers
NM_000144.5
p.W173G
c.517T>G
25 papers
NM_000144.5
p.N146K
c.438C>A
25 papers
NM_000144.5
p.N146K
c.438C>G
19 papers
NM_000144.5
p.R165P
c.494G>C
19 papers
NM_000144.5
p.L182F
c.544C>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."