Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A239_V240insFs

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.A239_V240insFs
c.717_718ins4
Surrounding Variants
1 paper
NM_000143.4
p.V240L
c.718G>C
2 papers
NM_000143.4
p.V240I
c.718G>A
2 papers
NM_000143.4
p.A239V
c.716C>T
3 papers
NM_000143.4
p.A239T
c.715G>A
1 paper
NM_000143.4
p.V240fs
c.718_719fs
1 paper
NM_000143.4
p.V240V
c.720T>C
1 paper
NM_000143.4
p.P241S
c.721C>T
1 paper
NM_000143.4
p.P241A
c.721C>G
1 paper
NM_000143.4
p.D238A
c.713A>C
1 paper
NM_000143.4
p.D238Y
c.712G>T
3 papers
NM_000143.4
p.D238H
c.712G>C
1 paper
NM_000143.4
p.D238N
c.712G>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."