Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.K171E

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.K171E
c.511A>G
Surrounding Variants
1 paper
NM_000144.5
p.K171R
c.512A>G
1 paper
NM_000144.5
p.K171_S181del11
c.511_542del33
3 papers
NM_000144.5
p.K171_N172insFs
c.513_514insTT
1 paper
NM_000144.5
p.G170W
c.508G>T
1 paper
NM_000144.5
p.W173R
c.517T>A
1 paper
NM_000144.5
p.W173R
c.517T>C
32 papers
NM_000144.5
p.W173G
c.517T>G
5 papers
NM_000144.5
p.W173C
c.519G>C
5 papers
NM_000144.5
p.W173C
c.519G>T
1 paper
NM_000144.5
p.V174_Y175delFs
c.522_523delGT
1 paper
NM_000144.5
p.V174L
c.520G>C
1 paper
NM_000144.5
p.V174L
c.520G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."