Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.N151S

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.N151S
c.452A>G
Surrounding Variants
1 paper
NM_000144.5
p.K152E
c.454A>G
1 paper
NM_000144.5
p.Q153K
c.457C>A
1 paper
NM_000144.5
p.Q153R
c.458A>G
1 paper
NM_000144.5
p.T149M
c.446C>T
3 papers
NM_000144.5
p.Q153H
c.459A>C
1 paper
NM_000144.5
p.T149A
c.445A>G
3 papers
NM_000144.5
p.Q153H
c.459A>T
1 paper
NM_000144.5
p.I154V
c.460A>G
70 papers
NM_000144.5
p.I154F
c.460A>T
10 papers
NM_000144.5
p.Q148R
c.443A>G
50 papers
NM_000144.5
p.W155R
c.463T>A
50 papers
NM_000144.5
p.W155R
c.463T>C
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