Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.L198V

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.L198V
c.592C>G
Surrounding Variants
15 papers
NM_000144.5
p.L198R
c.593T>G
1 paper
NM_000144.5
p.K197R
c.590A>G
1 paper
NM_000144.5
p.D199N
c.595G>A
1 paper
NM_000144.5
p.D199G
c.596A>G
1 paper
NM_000144.5
p.T196I
c.587C>T
1 paper
NM_000144.5
p.T196A
c.586A>G
1 paper
NM_000144.5
p.K195N
c.585A>C
1 paper
NM_000144.5
p.K195N
c.585A>T
1 paper
NM_000144.5
p.L200S
c.599T>C
1 paper
NM_000144.5
p.K195R
c.584A>G
1 paper
NM_000144.5
p.L200F
c.600G>C
1 paper
NM_000144.5
p.L200F
c.600G>T
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