Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.T191S

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.T191S
c.572C>G
Surrounding Variants
1 paper
NM_000144.5
p.T191I
c.572C>T
1 paper
NM_000144.5
p.T191A
c.571A>G
1 paper
NM_000144.5
p.T191S
c.571A>T
1 paper
NM_000144.5
p.T191delFs
c.572delC
1 paper
NM_000144.5
p.K192*
c.574A>T
2 papers
NM_000144.5
p.L190P
c.569T>C
2 papers
NM_000144.5
p.L190R
c.569T>G
1 paper
NM_000144.5
p.E189D
c.567G>C
1 paper
NM_000144.5
p.A193P
c.577G>C
1 paper
NM_000144.5
p.E189D
c.567G>T
1 paper
NM_000144.5
p.A193G
c.578C>G
1 paper
NM_000144.5
p.A188G
c.563C>G
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