Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E224fs

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.E224fs
c.670_671fs
Surrounding Variants
1 paper
NM_000143.4
p.E224K
c.670G>A
5 papers
NM_000143.4
p.K223delFs
c.668_669delTT
1 paper
NM_000143.4
p.K223Fs
c.669delinsTAGFs
4 papers
NM_000143.4
p.K223fs
c.667_668fs
1 paper
NM_000143.4
p.E224delins
c.670_671delinsTT
4 papers
NM_000143.4
p.E224fs
c.670_671fs
1 paper
NM_000143.4
p.K223T
c.668A>C
1 paper
NM_000143.4
p.F225L
c.673T>C
3 papers
NM_000143.4
p.F225fs
c.673_674fs
6 papers
NM_000143.4
p.E224delFs
c.671_672delCT
1 paper
NM_000143.4
p.K223*
c.667A>T
1 paper
NM_000143.4
p.K223E
c.667A>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."