Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.W155R

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
50 papers
NM_000144.5
p.W155R
c.463T>C
Surrounding Variants
50 papers
NM_000144.5
p.W155R
c.463T>A
1 paper
NM_000144.5
p.W155G
c.463T>G
5 papers
NM_000144.5
p.W155*
c.464G>A
5 papers
NM_000144.5
p.W155*
c.465G>A
1 paper
NM_000144.5
p.I154V
c.460A>G
70 papers
NM_000144.5
p.I154F
c.460A>T
1 paper
NM_000144.5
p.L156I
c.466C>A
1 paper
NM_000144.5
p.L156V
c.466C>G
1 paper
NM_000144.5
p.L156delFs
c.467delT
3 papers
NM_000144.5
p.Q153H
c.459A>C
3 papers
NM_000144.5
p.Q153H
c.459A>T
18 papers
NM_000144.5
p.L156P
c.467T>C
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."