Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G364*

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.G364*
c.1090G>T
Surrounding Variants
2 papers
NM_000143.4
p.G364R
c.1090G>C
3 papers
NM_000143.4
p.G364R
c.1090G>A
1 paper
NM_000143.4
p.G364V
c.1091G>T
3 papers
NM_000143.4
p.G364A
c.1091G>C
1 paper
NM_000143.4
p.G364E
c.1091G>A
1 paper
NM_000143.4
p.P363P
c.1089A>G
2 papers
NM_000143.4
p.P363L
c.1088C>T
1 paper
NM_000143.4
p.P363R
c.1088C>G
1 paper
NM_000143.4
p.P363Q
c.1088C>A
1 paper
NM_000143.4
p.G364G
c.1092A>G
1 paper
NM_000143.4
p.P363S
c.1087C>T
1 paper
NM_000143.4
p.P363A
c.1087C>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."