Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Y110H

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.Y110H
c.328T>C
Surrounding Variants
3 papers
NM_000143.4
p.Y110N
c.328T>A
1 paper
NM_000143.4
p.D109E
c.327T>G
1 paper
NM_000143.4
p.D109E
c.327T>A
2 papers
NM_000143.4
p.Y110Y
c.330T>C
1 paper
NM_000143.4
p.D109V
c.326A>T
1 paper
NM_000143.4
p.D109N
c.325G>A
1 paper
NM_000143.4
p.G111D
c.332G>A
1 paper
NM_000143.4
p.N107_Q108del1
c.321_323delTGG
1 paper
NM_000143.4
p.G111G
c.333T>C
1 paper
NM_000143.4
p.Q108L
c.323A>T
3 papers
NM_000143.4
p.Q108*
c.322C>T
1 paper
NM_000143.4
p.L112F
c.334C>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."