Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.F109L

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
6 papers
NM_000144.5
p.F109L
c.325T>C
Surrounding Variants
1 paper
NM_000144.5
p.E108D
c.324G>C
1 paper
NM_000144.5
p.E108D
c.324G>T
1 paper
NM_000144.5
p.E108A
c.323A>C
1 paper
NM_000144.5
p.E108V
c.323A>T
6 papers
NM_000144.5
p.F109L
c.327T>A
6 papers
NM_000144.5
p.F109L
c.327T>G
3 papers
NM_000144.5
p.E108K
c.322G>A
1 paper
NM_000144.5
p.F110S
c.329T>C
5 papers
NM_000144.5
p.A107V
c.320C>T
3 papers
NM_000144.5
p.E111K
c.331G>A
1 paper
NM_000144.5
p.A107P
c.319G>C
1 paper
NM_000144.5
p.E111A
c.332A>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."