Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G397A

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.G397A
c.1190G>C
Surrounding Variants
1 paper
NM_000143.4
p.G397V
c.1190G>T
1 paper
NM_000143.4
p.G397E
c.1190G>A
1 paper
NM_000143.4
p.G397insFs
c.1189_1190insT
29 papers
NM_000143.4
p.G397R
c.1189G>C
33 papers
NM_000143.4
p.G397R
c.1189G>A
1 paper
NM_000143.4
p.G398C
c.1192G>T
1 paper
NM_000143.4
p.G398R
c.1192G>C
1 paper
NM_000143.4
p.G398S
c.1192G>A
1 paper
NM_000143.4
p.V396V
c.1188C>T
1 paper
NM_000143.4
p.V396_G397insFs
c.1188_1189insT
1 paper
NM_000143.4
p.V396V
c.1188C>A
2 papers
NM_000143.4
p.V396G
c.1187T>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."