Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L405M

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.L405M
c.1213T>A
Surrounding Variants
1 paper
NM_000143.4
p.L405V
c.1213T>G
1 paper
NM_000143.4
p.L405W
c.1214T>G
3 papers
NM_000143.4
p.L405S
c.1214T>C
3 papers
NM_000143.4
p.E404D
c.1212G>T
2 papers
NM_000143.4
p.E404D
c.1212G>C
1 paper
NM_000143.4
p.E404E
c.1212G>A
1 paper
NM_000143.4
p.L405F
c.1215G>T
1 paper
NM_000143.4
p.L405F
c.1215G>C
1 paper
NM_000143.4
p.E404V
c.1211A>T
1 paper
NM_000143.4
p.E404G
c.1211A>G
2 papers
NM_000143.4
p.E404A
c.1211A>C
7 papers
NM_000143.4
p.E404*
c.1210G>T
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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."