Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M328L

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.M328L
c.982A>T
Surrounding Variants
3 papers
NM_000143.4
p.M328V
c.982A>G
1 paper
NM_000143.4
p.M328L
c.982A>C
1 paper
NM_000143.4
p.M328R
c.983T>G
1 paper
NM_000143.4
p.M328T
c.983T>C
1 paper
NM_000143.4
p.M328delFs
c.982delT
1 paper
NM_000143.4
p.A327A
c.981C>T
1 paper
NM_000143.4
p.A327T
c.979G>A
8 papers
NM_000143.4
p.N329S
c.986A>G
7 papers
NM_000143.4
p.G326E
c.977G>A
1 paper
NM_000143.4
p.N329N
c.987C>T
1 paper
NM_000143.4
p.G326R
c.976G>C
1 paper
NM_000143.4
p.G326R
c.976G>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."