Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K122_A123delFs

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.K122_A123delFs
c.364_367del4
Surrounding Variants
2 papers
NM_000143.4
p.A124V
c.371C>T
1 paper
NM_000143.4
p.A124A
c.372A>T
1 paper
NM_000143.4
p.M121insFs
c.362_363insT
1 paper
NM_000143.4
p.M121insFs
c.362_363insTT
1 paper
NM_000143.4
p.D125N
c.373G>A
1 paper
NM_000143.4
p.A124delFs
c.372delT
1 paper
NM_000143.4
p.D125D
c.375T>C
1 paper
NM_000143.4
p.M121L
c.361A>T
1 paper
NM_000143.4
p.M121L
c.361A>C
1 paper
NM_000143.4
p.E126*
c.376G>T
2 papers
NM_000143.4
p.E126K
c.376G>A
1 paper
NM_000143.4
p.E126D
c.378G>T
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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."