Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H318Y

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
17 papers
NM_000143.4
p.H318Y
c.952C>T
Surrounding Variants
4 papers
NM_000143.4
p.H318L
c.953A>T
2 papers
NM_000143.4
p.H318R
c.953A>G
1 paper
NM_000143.4
p.H318P
c.953A>C
1 paper
NM_000143.4
p.A317V
c.950C>T
4 papers
NM_000143.4
p.D319H
c.955G>C
2 papers
NM_000143.4
p.D319N
c.955G>A
1 paper
NM_000143.4
p.T307_A316del10
c.919_947del30
1 paper
NM_000143.4
p.D319V
c.956A>T
2 papers
NM_000143.4
p.D319G
c.956A>G
3 papers
NM_000143.4
p.A316V
c.947C>T
1 paper
NM_000143.4
p.D319D
c.957C>T
4 papers
NM_000143.4
p.A316D
c.947C>A
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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."