Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.D122N

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.D122N
c.364G>A
Surrounding Variants
37 papers
NM_000144.5
p.D122Y
c.364G>T
1 paper
NM_000144.5
p.D122A
c.365A>C
1 paper
NM_000144.5
p.E121A
c.362A>C
4 papers
NM_000144.5
p.Y123D
c.367T>G
6 papers
NM_000144.5
p.Y123S
c.368A>C
2 papers
NM_000144.5
p.Y123F
c.368A>T
2 papers
NM_000144.5
p.D124A
c.371A>C
1 paper
NM_000144.5
p.T119K
c.356C>A
1 paper
NM_000144.5
p.T119M
c.356C>T
5 papers
NM_000144.5
p.Y118*
c.354C>A
5 papers
NM_000144.5
p.Y118*
c.354C>G
1 paper
NM_000144.5
p.V125G
c.374T>G
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