Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T330S

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.T330S
c.988A>T
Surrounding Variants
2 papers
NM_000143.4
p.T330A
c.988A>G
5 papers
NM_000143.4
p.T330P
c.988A>C
1 paper
NM_000143.4
p.N329N
c.987C>T
1 paper
NM_000143.4
p.T330S
c.989C>G
1 paper
NM_000143.4
p.T330T
c.990T>A
8 papers
NM_000143.4
p.N329S
c.986A>G
2 papers
NM_000143.4
p.T331A
c.991A>G
1 paper
NM_000143.4
p.T331P
c.991A>C
2 papers
NM_000143.4
p.T331insFs
c.991dupA
2 papers
NM_000143.4
p.T331fs
c.991_992fs
1 paper
NM_000143.4
p.M328R
c.983T>G
1 paper
NM_000143.4
p.T331T
c.993T>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."