Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.W141*

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
3 papers
NM_000143.4
p.W141*
c.422G>A
Surrounding Variants
3 papers
NM_000143.4
p.W141*
c.423G>A
7 papers
NM_000143.4
p.Q142*
c.424C>T
1 paper
NM_000143.4
p.Q142E
c.424C>G
6 papers
NM_000143.4
p.Q142K
c.424C>A
1 paper
NM_000143.4
p.V140V
c.420A>G
2 papers
NM_000143.4
p.V140fs
c.418_419fs
3 papers
NM_000143.4
p.V140G
c.419T>G
3 papers
NM_000143.4
p.V139delFs
c.417delC
8 papers
NM_000143.4
p.Q142R
c.425A>G
4 papers
NM_000143.4
p.V140L
c.418G>T
3 papers
NM_000143.4
p.V140L
c.418G>C
1 paper
NM_000143.4
p.V140I
c.418G>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."