Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N478I

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.N478I
c.1433A>T
Surrounding Variants
1 paper
NM_000143.4
p.N478S
c.1433A>G
1 paper
NM_000143.4
p.N478T
c.1433A>C
1 paper
NM_000143.4
p.N478fs
c.1432_1433fs
54 papers
NM_000143.4
p.K477_N478ins0
c.1431_1433dupAAA
2 papers
NM_000143.4
p.N478K
c.1434T>G
1 paper
NM_000143.4
p.N478N
c.1434T>C
2 papers
NM_000143.4
p.N478K
c.1434T>A
1 paper
NM_000143.4
p.N478Y
c.1432A>T
2 papers
NM_000143.4
p.N478D
c.1432A>G
1 paper
NM_000143.4
p.N478H
c.1432A>C
1 paper
NM_000143.4
p.G479*
c.1435G>T
1 paper
NM_000143.4
p.G479R
c.1435G>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."