Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L138V

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.L138V
c.412C>G
Surrounding Variants
1 paper
NM_000143.4
p.L138F
c.412C>T
1 paper
NM_000143.4
p.L138insFs
c.412_413insA
1 paper
NM_000143.4
p.L138R
c.413T>G
2 papers
NM_000143.4
p.L138L
c.414C>T
1 paper
NM_000143.4
p.P137R
c.410C>G
2 papers
NM_000143.4
p.L138fs
c.412_413fs
1 paper
NM_000143.4
p.L138L
c.414C>A
1 paper
NM_000143.4
p.V139L
c.415G>C
4 papers
NM_000143.4
p.V139M
c.415G>A
3 papers
NM_000143.4
p.L138delFs
c.413_414delGA
2 papers
NM_000143.4
p.P137S
c.409C>T
2 papers
NM_000143.4
p.F136S
c.407T>C
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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."