Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N154S

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.N154S
c.461A>G
Surrounding Variants
2 papers
NM_000143.4
p.N154K
c.462T>G
2 papers
NM_000143.4
p.N154K
c.462T>A
4 papers
NM_000143.4
p.N154H
c.460A>C
1 paper
NM_000143.4
p.V153fs
c.457_458fs
1 paper
NM_000143.4
p.V153delFs
c.457delC
1 paper
NM_000143.4
p.E155D
c.465A>T
1 paper
NM_000143.4
p.E155D
c.465A>C
1 paper
NM_000143.4
p.N152N
c.456T>C
1 paper
NM_000143.4
p.T143_N152delFs
c.427_454del28
2 papers
NM_000143.4
p.V156I
c.466G>A
1 paper
NM_000143.4
p.V156D
c.467T>A
1 paper
NM_000143.4
p.V156V
c.468C>A
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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."