Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N406K

FH

1,008 papers

RefSeq Summary

The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic f...

Pfam Domains

Lyase_1aa 58–389UCSCLyase
FumaraseC_Caa 455–508UCSCFumarase C C-terminus

Gene Aliases

HGNC Name

fumarate hydratase

HGNC Alias Name

fumarase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000143.4
p.N406K
c.1218T>A
Surrounding Variants
1 paper
NM_000143.4
p.N406K
c.1218T>G
1 paper
NM_000143.4
p.V407F
c.1219G>T
1 paper
NM_000143.4
p.V407L
c.1219G>C
1 paper
NM_000143.4
p.V407I
c.1219G>A
2 papers
NM_000143.4
p.N406I
c.1217A>T
1 paper
NM_000143.4
p.N406S
c.1217A>G
1 paper
NM_000143.4
p.N406T
c.1217A>C
2 papers
NM_000143.4
p.V407G
c.1220T>G
1 paper
NM_000143.4
p.V407A
c.1220T>C
1 paper
NM_000143.4
p.V407D
c.1220T>A
1 paper
NM_000143.4
p.N406Y
c.1216A>T
1 paper
NM_000143.4
p.N406D
c.1216A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."