Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E313D

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.E313D
c.939A>T
Surrounding Variants
1 paper
NM_000143.4
p.E313D
c.939A>C
1 paper
NM_000143.4
p.E313delFs
c.939delT
1 paper
NM_000143.4
p.E313V
c.938A>T
4 papers
NM_000143.4
p.E313*
c.937G>T
1 paper
NM_000143.4
p.E313K
c.937G>A
1 paper
NM_000143.4
p.A314G
c.941C>G
1 paper
NM_000143.4
p.A314fs
c.940_941fs
2 papers
NM_000143.4
p.F312L
c.936T>G
1 paper
NM_000143.4
p.A314A
c.942T>G
1 paper
NM_000143.4
p.A314A
c.942T>C
2 papers
NM_000143.4
p.F312L
c.936T>A
3 papers
NM_000143.4
p.F312C
c.935T>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."