Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G302Splc

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.G302Splc
c.905-2A>G
Surrounding Variants
2 papers
NM_000143.4
p.G302Splc
c.905-2A>T
1 paper
NM_000143.4
p.G302Splc
c.905-1G>C
8 papers
NM_000143.4
p.G302Splc
c.905-1G>A
2 papers
NM_000143.4
p.G302A
c.905G>C
1 paper
NM_000143.4
p.G302D
c.905G>A
1 paper
NM_000143.4
p.G302Splc
c.905-5T>C
1 paper
NM_000143.4
p.G302Splc
c.905-5T>A
1 paper
NM_000143.4
p.L303V
c.907T>G
8 papers
NM_000143.4
p.L303S
c.908T>C
1 paper
NM_000143.4
p.L303fs
c.907_908fs
1 paper
NM_000143.4
p.G302Splc
c.905-10T>G
2 papers
NM_000143.4
p.P304L
c.911C>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."