Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S347Y

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.S347Y
c.1040C>A
Surrounding Variants
1 paper
NM_000143.4
p.S347S
c.1041T>C
1 paper
NM_000143.4
p.S347P
c.1039T>C
1 paper
NM_000143.4
p.L345insFs
c.1035dupG
1 paper
NM_000143.4
p.G346fs
c.1036_1037fs
2 papers
NM_000143.4
p.G346delFs
c.1037delC
1 paper
NM_000143.4
p.G348fs
c.1042_1043fs
2 papers
NM_000143.4
p.G348S
c.1042G>A
3 papers
NM_000143.4
p.S347delFs
c.1041delA
4 papers
NM_000143.4
p.G348A
c.1043G>C
3 papers
NM_000143.4
p.G346D
c.1037G>A
1 paper
NM_000143.4
p.G348D
c.1043G>A
2 papers
NM_000143.4
p.G348fs
c.1042_1043fs
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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."