Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N150T

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.N150T
c.449A>C
Surrounding Variants
1 paper
NM_000143.4
p.T149del1
c.445_446delTGT
2 papers
NM_000143.4
p.N150K
c.450T>G
2 papers
NM_000143.4
p.N150K
c.450T>A
1 paper
NM_000143.4
p.N150H
c.448A>C
1 paper
NM_000143.4
p.M151L
c.451A>T
1 paper
NM_000143.4
p.M151L
c.451A>C
1 paper
NM_000143.4
p.T149fs
c.445_446fs
1 paper
NM_000143.4
p.M151R
c.452T>G
1 paper
NM_000143.4
p.M151K
c.452T>A
1 paper
NM_000143.4
p.T149I
c.446C>T
1 paper
NM_000143.4
p.T149Fs
c.445_446delinsGGTATCTFs
2 papers
NM_000143.4
p.M151I
c.453G>T
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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."