Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E202D

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.E202D
c.606A>T
Surrounding Variants
1 paper
NM_000143.4
p.E202insFs
c.606dupA
1 paper
NM_000143.4
p.V203G
c.608T>G
1 paper
NM_000143.4
p.I201T
c.602T>C
1 paper
NM_000143.4
p.H204Y
c.610C>T
1 paper
NM_000143.4
p.H204N
c.610C>A
1 paper
NM_000143.4
p.H204L
c.611A>T
1 paper
NM_000143.4
p.H204R
c.611A>G
1 paper
NM_000143.4
p.A200del1
c.598_599delTGC
1 paper
NM_000143.4
p.H204Q
c.612T>G
1 paper
NM_000143.4
p.H204Q
c.612T>A
1 paper
NM_000143.4
p.A200A
c.600A>C
1 paper
NM_000143.4
p.A199_A200del1
c.597_599delGCA
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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."