Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H391R

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
3 papers
NM_000143.4
p.H391R
c.1172A>G
Surrounding Variants
1 paper
NM_000143.4
p.H391L
c.1172A>T
1 paper
NM_000143.4
p.H391P
c.1172A>C
1 paper
NM_000143.4
p.H391Q
c.1173T>G
1 paper
NM_000143.4
p.H391H
c.1173T>C
1 paper
NM_000143.4
p.H391Q
c.1173T>A
1 paper
NM_000143.4
p.H391Y
c.1171C>T
1 paper
NM_000143.4
p.H391D
c.1171C>G
1 paper
NM_000143.4
p.H391N
c.1171C>A
1 paper
NM_000143.4
p.V392F
c.1174G>T
1 paper
NM_000143.4
p.V392L
c.1174G>C
1 paper
NM_000143.4
p.V392I
c.1174G>A
1 paper
NM_000143.4
p.H391delFs
c.1173delA
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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."