Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.R343delFs

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
2 papers
NM_000143.4
p.R343delFs
c.1028delC
Surrounding Variants
2 papers
NM_000143.4
p.R343fs
c.1027_1028fs
4 papers
NM_000143.4
p.R343Q
c.1028G>A
20 papers
NM_000143.4
p.R343*
c.1027C>T
1 paper
NM_000143.4
p.I342T
c.1025T>C
1 paper
NM_000143.4
p.L345S
c.1034T>C
1 paper
NM_000143.4
p.D341E
c.1023T>G
1 paper
NM_000143.4
p.D341D
c.1023T>C
1 paper
NM_000143.4
p.D341E
c.1023T>A
2 papers
NM_000143.4
p.L345insFs
c.1034dupT
1 paper
NM_000143.4
p.L345fs
c.1033_1034fs
1 paper
NM_000143.4
p.L345L
c.1035G>A
1 paper
NM_000143.4
p.L345delFs
c.1034delA
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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."