Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.S158A

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.S158A
c.472T>G
Surrounding Variants
1 paper
NM_000144.5
p.S158P
c.472T>C
18 papers
NM_000144.5
p.L156P
c.467T>C
1 paper
NM_000144.5
p.L156I
c.466C>A
1 paper
NM_000144.5
p.L156V
c.466C>G
1 paper
NM_000144.5
p.L156delFs
c.467delT
1 paper
NM_000144.5
p.S160T
c.478T>A
1 paper
NM_000144.5
p.S160C
c.479C>G
5 papers
NM_000144.5
p.W155*
c.465G>A
5 papers
NM_000144.5
p.W155*
c.464G>A
1 paper
NM_000144.5
p.S161R
c.481A>C
50 papers
NM_000144.5
p.W155R
c.463T>A
50 papers
NM_000144.5
p.W155R
c.463T>C
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