Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A226E

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.A226E
c.677C>A
Surrounding Variants
3 papers
NM_000143.4
p.A226V
c.677C>T
3 papers
NM_000143.4
p.F225delFs
c.675delA
1 paper
NM_000143.4
p.A226A
c.678A>T
1 paper
NM_000143.4
p.A226A
c.678A>G
1 paper
NM_000143.4
p.A226fs
c.676_677fs
1 paper
NM_000143.4
p.F225fs
c.673_674fs
1 paper
NM_000143.4
p.F225L
c.675T>G
1 paper
NM_000143.4
p.F225L
c.675T>A
4 papers
NM_000143.4
p.Q227*
c.679C>T
1 paper
NM_000143.4
p.A226delFs
c.678delT
1 paper
NM_000143.4
p.F225S
c.674T>C
1 paper
NM_000143.4
p.F225L
c.673T>C
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."