Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E378V

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.E378V
c.1133A>T
Surrounding Variants
1 paper
NM_000143.4
p.E378G
c.1133A>G
1 paper
NM_000143.4
p.E378A
c.1133A>C
1 paper
NM_000143.4
p.E378*
c.1132G>T
1 paper
NM_000143.4
p.E378Q
c.1132G>C
5 papers
NM_000143.4
p.E378K
c.1132G>A
1 paper
NM_000143.4
p.E378D
c.1134A>T
1 paper
NM_000143.4
p.E378D
c.1134A>C
1 paper
NM_000143.4
p.E378fs
c.1132_1133fs
1 paper
NM_000143.4
p.C377W
c.1131T>G
1 paper
NM_000143.4
p.A379S
c.1135G>T
1 paper
NM_000143.4
p.E378insFs
c.1133_1134insAA
1 paper
NM_000143.4
p.A379P
c.1135G>C
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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."