Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.A114V

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
2 papers
NM_000144.5
p.A114V
c.341C>T
Surrounding Variants
1 paper
NM_000144.5
p.D115A
c.344A>C
1 paper
NM_000144.5
p.A114_Y118delFs
c.340_352del13
1 paper
NM_000144.5
p.L113I
c.337C>A
1 paper
NM_000144.5
p.D115E
c.345C>A
1 paper
NM_000144.5
p.L113insFs
c.338_339insT
1 paper
NM_000144.5
p.D115E
c.345C>G
1 paper
NM_000144.5
p.K116E
c.346A>G
2 papers
NM_000144.5
p.D112A
c.335A>C
1 paper
NM_000144.5
p.D112H
c.334G>C
2 papers
NM_000144.5
p.D112Y
c.334G>T
1 paper
NM_000144.5
p.P117T
c.349C>A
1 paper
NM_000144.5
p.E111A
c.332A>C
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