Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K94fs

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.K94fs
c.280_281fs
Surrounding Variants
2 papers
NM_000143.4
p.I93fs
c.277_278fs
1 paper
NM_000143.4
p.I93M
c.279T>G
1 paper
NM_000143.4
p.K94R
c.281A>G
1 paper
NM_000143.4
p.I93N
c.278T>A
1 paper
NM_000143.4
p.A95T
c.283G>A
1 paper
NM_000143.4
p.I93V
c.277A>G
1 paper
NM_000143.4
p.I93L
c.277A>C
2 papers
NM_000143.4
p.V92delFs
c.276delA
1 paper
NM_000143.4
p.A95insFs
c.284_285insA
2 papers
NM_000143.4
p.A95D
c.284C>A
1 paper
NM_000143.4
p.A95A
c.285T>C
1 paper
NM_000143.4
p.A95A
c.285T>A
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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."