Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E495K

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.E495K
c.1483G>A
Surrounding Variants
1 paper
NM_000143.4
p.E495Q
c.1483G>C
1 paper
NM_000143.4
p.E495V
c.1484A>T
1 paper
NM_000143.4
p.E495G
c.1484A>G
1 paper
NM_000143.4
p.A494A
c.1482A>G
1 paper
NM_000143.4
p.E495A
c.1484A>C
1 paper
NM_000143.4
p.E495D
c.1485G>T
2 papers
NM_000143.4
p.E495fs
c.1483_1484fs
1 paper
NM_000143.4
p.E495D
c.1485G>C
1 paper
NM_000143.4
p.A494V
c.1481C>T
1 paper
NM_000143.4
p.A494G
c.1481C>G
1 paper
NM_000143.4
p.A494E
c.1481C>A
1 paper
NM_000143.4
p.A494S
c.1480G>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."