Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A379V

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.A379V
c.1136C>T
Surrounding Variants
1 paper
NM_000143.4
p.A379G
c.1136C>G
1 paper
NM_000143.4
p.A379E
c.1136C>A
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
1 paper
NM_000143.4
p.A379T
c.1135G>A
1 paper
NM_000143.4
p.M380fs
c.1138_1139fs
1 paper
NM_000143.4
p.M380L
c.1138A>T
1 paper
NM_000143.4
p.E378D
c.1134A>T
2 papers
NM_000143.4
p.M380V
c.1138A>G
1 paper
NM_000143.4
p.M380L
c.1138A>C
1 paper
NM_000143.4
p.E378D
c.1134A>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."