Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L132I

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.L132I
c.394T>A
Surrounding Variants
1 paper
NM_000143.4
p.L132L
c.394T>C
5 papers
NM_000143.4
p.L132*
c.395T>G
6 papers
NM_000143.4
p.L132S
c.395T>C
5 papers
NM_000143.4
p.L132*
c.395T>A
1 paper
NM_000143.4
p.L132L
c.396A>G
1 paper
NM_000143.4
p.K131R
c.392A>G
1 paper
NM_000143.4
p.L132fs
c.394_395fs
2 papers
NM_000143.4
p.L132delFs
c.395delA
1 paper
NM_000143.4
p.N133S
c.398A>G
1 paper
NM_000143.4
p.N133N
c.399T>C
1 paper
NM_000143.4
p.D134N
c.400G>A
1 paper
NM_000143.4
p.G130S
c.388G>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."