Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G370V

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.G370V
c.1109G>T
Surrounding Variants
1 paper
NM_000143.4
p.G370A
c.1109G>C
1 paper
NM_000143.4
p.G370D
c.1109G>A
1 paper
NM_000143.4
p.G370C
c.1108G>T
3 papers
NM_000143.4
p.G370Splc
c.1109-1G>C
2 papers
NM_000143.4
p.G370Splc
c.1109-1G>A
1 paper
NM_000143.4
p.G370G
c.1110C>T
3 papers
NM_000143.4
p.K371*
c.1111A>T
1 paper
NM_000143.4
p.K371E
c.1111A>G
1 paper
NM_000143.4
p.K371Q
c.1111A>C
1 paper
NM_000143.4
p.K371M
c.1112A>T
1 paper
NM_000143.4
p.K371R
c.1112A>G
1 paper
NM_000143.4
p.K371T
c.1112A>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."