Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Y118C

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.Y118C
c.353A>G
Surrounding Variants
3 papers
NM_000144.5
p.Y118F
c.353A>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.T119K
c.356C>A
1 paper
NM_000144.5
p.P117L
c.350C>T
1 paper
NM_000144.5
p.T119M
c.356C>T
1 paper
NM_000144.5
p.P117T
c.349C>A
1 paper
NM_000144.5
p.K116E
c.346A>G
1 paper
NM_000144.5
p.D115E
c.345C>A
1 paper
NM_000144.5
p.D115E
c.345C>G
1 paper
NM_000144.5
p.D115A
c.344A>C
1 paper
NM_000144.5
p.E121A
c.362A>C
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