Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.R165P

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
Selected Variant
19 papers
NM_000144.5
p.R165P
c.494G>C
Surrounding Variants
2 papers
NM_000144.5
p.R165H
c.494G>A
40 papers
NM_000144.5
p.R165C
c.493C>T
1 paper
NM_000144.5
p.K164R
c.491A>G
2 papers
NM_000144.5
p.Y166F
c.497A>T
1 paper
NM_000144.5
p.D167_V174Fs
c.500_521delinsTTGFs
1 paper
NM_000144.5
p.D167E
c.501C>A
1 paper
NM_000144.5
p.D167E
c.501C>G
7 papers
NM_000144.5
p.W168R
c.502T>A
7 papers
NM_000144.5
p.W168R
c.502T>C
1 paper
NM_000144.5
p.W168G
c.502T>G
1 paper
NM_000144.5
p.S161Splc
c.483-2A>G
1 paper
NM_000144.5
p.G170W
c.508G>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."