Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L358L

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.L358L
c.1072T>C
Surrounding Variants
1 paper
NM_000143.4
p.L358V
c.1072T>G
1 paper
NM_000143.4
p.L356_I357delFs
c.1068_1071del4
1 paper
NM_000143.4
p.I357I
c.1071C>T
1 paper
NM_000143.4
p.I357M
c.1071C>G
1 paper
NM_000143.4
p.I357I
c.1071C>A
2 papers
NM_000143.4
p.I357T
c.1070T>C
1 paper
NM_000143.4
p.P359A
c.1075C>G
2 papers
NM_000143.4
p.I357L
c.1069A>C
1 paper
NM_000143.4
p.L356F
c.1068G>T
1 paper
NM_000143.4
p.L356L
c.1068G>A
1 paper
NM_000143.4
p.P359P
c.1077T>C
1 paper
NM_000143.4
p.L356S
c.1067T>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."