Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.L106*

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
15 papers
NM_000144.5
p.L106*
c.317T>A
Surrounding Variants
32 papers
NM_000144.5
p.L106S
c.317T>C
16 papers
NM_000144.5
p.L106*
c.317T>G
1 paper
NM_000144.5
p.L106V
c.316T>G
1 paper
NM_000144.5
p.A107P
c.319G>C
5 papers
NM_000144.5
p.A107V
c.320C>T
1 paper
NM_000144.5
p.S105F
c.314C>T
3 papers
NM_000144.5
p.L106delFs
c.317delT
1 paper
NM_000144.5
p.D104E
c.312C>A
1 paper
NM_000144.5
p.D104E
c.312C>G
3 papers
NM_000144.5
p.E108K
c.322G>A
1 paper
NM_000144.5
p.D104A
c.311A>C
1 paper
NM_000144.5
p.E108A
c.323A>C
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