Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K115fs

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.K115fs
c.343_344fs
Surrounding Variants
1 paper
NM_000143.4
p.R101_K115delFs
c.301_343del43
1 paper
NM_000143.4
p.K115fs
c.343_344fs
1 paper
NM_000143.4
p.K115K
c.345G>A
1 paper
NM_000143.4
p.K115delFs
c.344delT
1 paper
NM_000143.4
p.P114L
c.341C>T
1 paper
NM_000143.4
p.P114S
c.340C>T
1 paper
NM_000143.4
p.P114T
c.340C>A
3 papers
NM_000143.4
p.I116F
c.346A>T
1 paper
NM_000143.4
p.D113fs
c.337_338fs
1 paper
NM_000143.4
p.D113E
c.339T>G
1 paper
NM_000143.4
p.I116T
c.347T>C
1 paper
NM_000143.4
p.D113E
c.339T>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."