Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L489V

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.L489V
c.1465C>G
Surrounding Variants
2 papers
NM_000143.4
p.L489F
c.1465C>T
1 paper
NM_000143.4
p.L489I
c.1465C>A
1 paper
NM_000143.4
p.L489R
c.1466T>G
2 papers
NM_000143.4
p.L489P
c.1466T>C
1 paper
NM_000143.4
p.L489H
c.1466T>A
1 paper
NM_000143.4
p.E488D
c.1464A>T
1 paper
NM_000143.4
p.E488D
c.1464A>C
1 paper
NM_000143.4
p.E488V
c.1463A>T
1 paper
NM_000143.4
p.E488G
c.1463A>G
1 paper
NM_000143.4
p.E488A
c.1463A>C
1 paper
NM_000143.4
p.G490C
c.1468G>T
1 paper
NM_000143.4
p.L489insFs
c.1467dupT
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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."