Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.D319D

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.D319D
c.957C>T
Surrounding Variants
1 paper
NM_000143.4
p.A320T
c.958G>A
1 paper
NM_000143.4
p.H318_D319delFs
c.954_957del4
1 paper
NM_000143.4
p.D319V
c.956A>T
2 papers
NM_000143.4
p.D319G
c.956A>G
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.A320V
c.959C>T
1 paper
NM_000143.4
p.A320A
c.960T>C
1 paper
NM_000143.4
p.L321V
c.961C>G
1 paper
NM_000143.4
p.L321insFs
c.961_962insG
4 papers
NM_000143.4
p.H318L
c.953A>T
2 papers
NM_000143.4
p.H318R
c.953A>G
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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."