Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.V372E

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.V372E
c.1115T>A
Surrounding Variants
1 paper
NM_000143.4
p.V372G
c.1115T>G
1 paper
NM_000143.4
p.V372A
c.1115T>C
1 paper
NM_000143.4
p.V372L
c.1114G>T
1 paper
NM_000143.4
p.V372L
c.1114G>C
1 paper
NM_000143.4
p.V372M
c.1114G>A
2 papers
NM_000143.4
p.K371N
c.1113G>T
2 papers
NM_000143.4
p.K371fs
c.1111_1112fs
2 papers
NM_000143.4
p.K371N
c.1113G>C
2 papers
NM_000143.4
p.K371delFs
c.1112delT
1 paper
NM_000143.4
p.N373Y
c.1117A>T
3 papers
NM_000143.4
p.N373D
c.1117A>G
1 paper
NM_000143.4
p.N373H
c.1117A>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."