Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T143fs

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
2 papers
NM_000143.4
p.T143fs
c.427_428fs
Surrounding Variants
2 papers
NM_000143.4
p.G144R
c.430G>C
2 papers
NM_000143.4
p.G144R
c.430G>A
1 paper
NM_000143.4
p.T143I
c.428C>T
2 papers
NM_000143.4
p.T143delFs
c.427delT
2 papers
NM_000143.4
p.G144V
c.431G>T
2 papers
NM_000143.4
p.G144A
c.431G>C
1 paper
NM_000143.4
p.G144E
c.431G>A
1 paper
NM_000143.4
p.G144G
c.432A>G
1 paper
NM_000143.4
p.G144fs
c.430_431fs
1 paper
NM_000143.4
p.G144delFs
c.431delC
8 papers
NM_000143.4
p.Q142R
c.425A>G
7 papers
NM_000143.4
p.Q142*
c.424C>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."