Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G354R

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
15 papers
NM_000143.4
p.G354R
c.1060G>C
Surrounding Variants
1 paper
NM_000143.4
p.G354*
c.1060G>T
16 papers
NM_000143.4
p.G354R
c.1060G>A
1 paper
NM_000143.4
p.L353fs
c.1057_1058fs
2 papers
NM_000143.4
p.G354E
c.1061G>A
1 paper
NM_000143.4
p.L353P
c.1058T>C
1 paper
NM_000143.4
p.G354G
c.1062A>G
3 papers
NM_000143.4
p.E355*
c.1063G>T
1 paper
NM_000143.4
p.E355Q
c.1063G>C
5 papers
NM_000143.4
p.E355K
c.1063G>A
1 paper
NM_000143.4
p.G352insFs
c.1056dupT
1 paper
NM_000143.4
p.G352G
c.1056T>C
1 paper
NM_000143.4
p.E355G
c.1064A>G
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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."