Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q496R

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.Q496R
c.1487A>G
Surrounding Variants
1 paper
NM_000143.4
p.Q496L
c.1487A>T
1 paper
NM_000143.4
p.Q496P
c.1487A>C
1 paper
NM_000143.4
p.Q496H
c.1488G>T
1 paper
NM_000143.4
p.Q496H
c.1488G>C
2 papers
NM_000143.4
p.Q496*
c.1486C>T
1 paper
NM_000143.4
p.Q496E
c.1486C>G
1 paper
NM_000143.4
p.Q496K
c.1486C>A
1 paper
NM_000143.4
p.F497V
c.1489T>G
1 paper
NM_000143.4
p.F497L
c.1489T>C
1 paper
NM_000143.4
p.F497I
c.1489T>A
2 papers
NM_000143.4
p.E495_Q496delFs
c.1484_1488del5
1 paper
NM_000143.4
p.E495D
c.1485G>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."