Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K223fs

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.K223fs
c.667_668fs
Surrounding Variants
1 paper
NM_000143.4
p.K223*
c.667A>T
1 paper
NM_000143.4
p.K223E
c.667A>G
1 paper
NM_000143.4
p.S222delFs
c.666delG
2 papers
NM_000143.4
p.S222S
c.666C>A
1 paper
NM_000143.4
p.K223T
c.668A>C
1 paper
NM_000143.4
p.S222F
c.665C>T
1 paper
NM_000143.4
p.K223Fs
c.669delinsTAGFs
4 papers
NM_000143.4
p.K223fs
c.667_668fs
2 papers
NM_000143.4
p.S222P
c.664T>C
1 paper
NM_000143.4
p.S222T
c.664T>A
1 paper
NM_000143.4
p.E224K
c.670G>A
1 paper
NM_000143.4
p.E224fs
c.670_671fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."