Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E126_V127Splc

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.E126_V127Splc
c.378+24C>T
Surrounding Variants
1 paper
NM_000143.4
p.E126_V127Splc
c.378+28A>G
1 paper
NM_000143.4
p.E126_V127Splc
c.378+17G>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+15G>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+35C>G
1 paper
NM_000143.4
p.E126_V127Splc
c.378+10G>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+38A>C
1 paper
NM_000143.4
p.E126_V127Splc
c.378+39C>G
1 paper
NM_000143.4
p.E126_V127Splc
c.378+40C>T
1 paper
NM_000143.4
p.E126_V127Splc
c.378+7G>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+41C>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+42A>G
1 paper
NM_000143.4
p.E126_V127Splc
c.378+6A>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."