Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.G170W

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
1 paper
NM_000144.5
p.G170W
c.508G>T
Surrounding Variants
1 paper
NM_000144.5
p.K171_S181del11
c.511_542del33
1 paper
NM_000144.5
p.K171E
c.511A>G
1 paper
NM_000144.5
p.K171R
c.512A>G
3 papers
NM_000144.5
p.K171_N172insFs
c.513_514insTT
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.D167E
c.501C>A
1 paper
NM_000144.5
p.D167E
c.501C>G
1 paper
NM_000144.5
p.D167_V174Fs
c.500_521delinsTTGFs
1 paper
NM_000144.5
p.W173R
c.517T>A
1 paper
NM_000144.5
p.W173R
c.517T>C
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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."