Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T395S

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.T395S
c.1183A>T
Surrounding Variants
1 paper
NM_000143.4
p.T395A
c.1183A>G
2 papers
NM_000143.4
p.T395P
c.1183A>C
2 papers
NM_000143.4
p.T395I
c.1184C>T
1 paper
NM_000143.4
p.T395S
c.1184C>G
1 paper
NM_000143.4
p.T395N
c.1184C>A
2 papers
NM_000143.4
p.V392_V394del0
c.1176_1181del6
1 paper
NM_000143.4
p.V394G
c.1181T>G
1 paper
NM_000143.4
p.V394A
c.1181T>C
1 paper
NM_000143.4
p.V394D
c.1181T>A
1 paper
NM_000143.4
p.V396F
c.1186G>T
1 paper
NM_000143.4
p.V394F
c.1180G>T
4 papers
NM_000143.4
p.V394L
c.1180G>C
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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."