Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K483R

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.K483R
c.1448A>G
Surrounding Variants
1 paper
NM_000143.4
p.K483M
c.1448A>T
1 paper
NM_000143.4
p.K483T
c.1448A>C
2 papers
NM_000143.4
p.K483N
c.1449G>T
1 paper
NM_000143.4
p.K483insFs
c.1448dupA
1 paper
NM_000143.4
p.K483N
c.1449G>C
1 paper
NM_000143.4
p.K483E
c.1447A>G
1 paper
NM_000143.4
p.K483Q
c.1447A>C
1 paper
NM_000143.4
p.E484Q
c.1450G>C
2 papers
NM_000143.4
p.E484K
c.1450G>A
1 paper
NM_000143.4
p.L482_K483delFs
c.1446_1449del4
1 paper
NM_000143.4
p.L482F
c.1446A>T
1 paper
NM_000143.4
p.L482F
c.1446A>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."