Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.S181C

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
2 papers
NM_000144.5
p.S181C
c.542C>G
Surrounding Variants
6 papers
NM_000144.5
p.S181F
c.542C>T
19 papers
NM_000144.5
p.L182F
c.544C>T
11 papers
NM_000144.5
p.L182H
c.545T>A
1 paper
NM_000144.5
p.V180M
c.538G>A
1 paper
NM_000144.5
p.H183Y
c.547C>T
12 papers
NM_000144.5
p.H183R
c.548A>G
1 paper
NM_000144.5
p.H183L
c.548A>T
1 paper
NM_000144.5
p.G179S
c.535G>A
1 paper
NM_000144.5
p.G179R
c.535G>C
1 paper
NM_000144.5
p.D178E
c.534C>A
1 paper
NM_000144.5
p.D178E
c.534C>G
1 paper
NM_000144.5
p.E184delFs
c.552delG
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."