Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.F305L

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.F305L
c.915T>G
Surrounding Variants
3 papers
NM_000143.4
p.F305fs
c.913_914fs
1 paper
NM_000143.4
p.F305L
c.915T>A
3 papers
NM_000143.4
p.F305S
c.914T>C
1 paper
NM_000143.4
p.V306A
c.917T>C
1 paper
NM_000143.4
p.F305L
c.913T>C
2 papers
NM_000143.4
p.F305fs
c.913_914fs
1 paper
NM_000143.4
p.V306delFs
c.916delC
1 paper
NM_000143.4
p.P304fs
c.910_911fs
2 papers
NM_000143.4
p.P304delFs
c.911delG
1 paper
NM_000143.4
p.V306V
c.918C>G
2 papers
NM_000143.4
p.P304L
c.911C>T
1 paper
NM_000143.4
p.P304R
c.911C>G
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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."