Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.A99_E100insFs

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.A99_E100insFs
c.297_298insT
Surrounding Variants
1 paper
NM_000144.5
p.A99insFs
c.296_297insT
2 papers
NM_000144.5
p.E100A
c.299A>C
1 paper
NM_000144.5
p.A99T
c.295G>A
1 paper
NM_000144.5
p.E101*
c.301G>T
1 paper
NM_000144.5
p.L98P
c.293T>C
1 paper
NM_000144.5
p.E101A
c.302A>C
1 paper
NM_000144.5
p.E101G
c.302A>G
1 paper
NM_000144.5
p.L98I
c.292C>A
1 paper
NM_000144.5
p.R97K
c.290G>A
1 paper
NM_000144.5
p.R97G
c.289A>G
1 paper
NM_000144.5
p.T102M
c.305C>T
2 papers
NM_000144.5
p.E96A
c.287A>C
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