Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A200del1

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.A200del1
c.598_599delTGC
Surrounding Variants
1 paper
NM_000143.4
p.I201T
c.602T>C
1 paper
NM_000143.4
p.A200A
c.600A>C
1 paper
NM_000143.4
p.A199_A200del1
c.597_599delGCA
1 paper
NM_000143.4
p.A200P
c.598G>C
1 paper
NM_000143.4
p.A200T
c.598G>A
1 paper
NM_000143.4
p.A199fs
c.595_596fs
1 paper
NM_000143.4
p.A199V
c.596C>T
1 paper
NM_000143.4
p.A199G
c.596C>G
1 paper
NM_000143.4
p.E202D
c.606A>T
1 paper
NM_000143.4
p.E202insFs
c.606dupA
1 paper
NM_000143.4
p.A199P
c.595G>C
1 paper
NM_000143.4
p.A198fs
c.592_593fs
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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."