Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E163*

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.E163*
c.487G>T
Surrounding Variants
1 paper
NM_000143.4
p.E163Q
c.487G>C
1 paper
NM_000143.4
p.E163K
c.487G>A
1 paper
NM_000143.4
p.I162fs
c.484_485fs
1 paper
NM_000143.4
p.I162M
c.486T>G
1 paper
NM_000143.4
p.E163A
c.488A>C
2 papers
NM_000143.4
p.I162T
c.485T>C
2 papers
NM_000143.4
p.I162delFs
c.484delT
1 paper
NM_000143.4
p.I162V
c.484A>G
1 paper
NM_000143.4
p.A161A
c.483A>G
1 paper
NM_000143.4
p.M164I
c.492G>T
1 paper
NM_000143.4
p.M164I
c.492G>C
1 paper
NM_000143.4
p.M164I
c.492G>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."