Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.H183L

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.H183L
c.548A>T
Surrounding Variants
12 papers
NM_000144.5
p.H183R
c.548A>G
1 paper
NM_000144.5
p.H183Y
c.547C>T
1 paper
NM_000144.5
p.E184delFs
c.552delG
11 papers
NM_000144.5
p.L182H
c.545T>A
19 papers
NM_000144.5
p.L182F
c.544C>T
1 paper
NM_000144.5
p.L185ins6
c.554_555ins18
2 papers
NM_000144.5
p.S181C
c.542C>G
6 papers
NM_000144.5
p.S181F
c.542C>T
1 paper
NM_000144.5
p.L186fs
c.556_557fs
7 papers
NM_000144.5
p.L186R
c.557T>G
1 paper
NM_000144.5
p.V180M
c.538G>A
1 paper
NM_000144.5
p.A187V
c.560C>T
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