Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.D178N

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.D178N
c.532G>A
Surrounding Variants
1 paper
NM_000144.5
p.D178E
c.534C>A
1 paper
NM_000144.5
p.D178E
c.534C>G
1 paper
NM_000144.5
p.H177Y
c.529C>T
1 paper
NM_000144.5
p.G179S
c.535G>A
1 paper
NM_000144.5
p.G179R
c.535G>C
1 paper
NM_000144.5
p.V180M
c.538G>A
2 papers
NM_000144.5
p.Y175F
c.524A>T
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.V174A
c.521T>C
19 papers
NM_000144.5
p.L182F
c.544C>T
1 paper
NM_000144.5
p.V174L
c.520G>C
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