Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.P91P

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.P91P
c.273A>G
Surrounding Variants
4 papers
NM_000143.4
p.P91P
c.273A>T
1 paper
NM_000143.4
p.V92I
c.274G>A
2 papers
NM_000143.4
p.P91L
c.272C>T
1 paper
NM_000143.4
p.P91S
c.271C>T
1 paper
NM_000143.4
p.P91A
c.271C>G
1 paper
NM_000143.4
p.P91T
c.271C>A
1 paper
NM_000143.4
p.T90T
c.270C>T
1 paper
NM_000143.4
p.T90T
c.270C>G
1 paper
NM_000143.4
p.T90I
c.269C>T
1 paper
NM_000143.4
p.T90S
c.269C>G
1 paper
NM_000143.4
p.T90N
c.269C>A
1 paper
NM_000143.4
p.I93V
c.277A>G
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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."