Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E168insFs

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.E168insFs
c.503dupA
Surrounding Variants
2 papers
NM_000143.4
p.E168delFs
c.504delT
1 paper
NM_000143.4
p.L169P
c.506T>C
2 papers
NM_000143.4
p.E168fs
c.502_503fs
1 paper
NM_000143.4
p.E168V
c.503A>T
1 paper
NM_000143.4
p.G170R
c.508G>C
1 paper
NM_000143.4
p.E168fs
c.502_503fs
1 paper
NM_000143.4
p.G167G
c.501T>C
1 paper
NM_000143.4
p.G170V
c.509G>T
1 paper
NM_000143.4
p.G167V
c.500G>T
2 papers
NM_000143.4
p.G167D
c.500G>A
2 papers
NM_000143.4
p.G167C
c.499G>T
1 paper
NM_000143.4
p.G167S
c.499G>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."