Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E126del1

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.E126del1
c.376_377delCTC
Surrounding Variants
1 paper
NM_000143.4
p.E126_V127Splc
c.378+2T>G
5 papers
NM_000143.4
p.E126_V127Splc
c.378+2T>C
4 papers
NM_000143.4
p.E126_V127Splc
c.378+1G>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+3A>C
1 paper
NM_000143.4
p.E126D
c.378G>T
1 paper
NM_000143.4
p.E126D
c.378G>C
2 papers
NM_000143.4
p.E126E
c.378G>A
1 paper
NM_000143.4
p.E126*
c.376G>T
2 papers
NM_000143.4
p.E126K
c.376G>A
1 paper
NM_000143.4
p.E126_V127Splc
c.378+6A>G
1 paper
NM_000143.4
p.D125D
c.375T>C
1 paper
NM_000143.4
p.E126_V127Splc
c.378+7G>A
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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."