Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N390T

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.N390T
c.1169A>C
Surrounding Variants
1 paper
NM_000143.4
p.N390I
c.1169A>T
2 papers
NM_000143.4
p.N390S
c.1169A>G
1 paper
NM_000143.4
p.N390K
c.1170C>G
1 paper
NM_000143.4
p.N390K
c.1170C>A
1 paper
NM_000143.4
p.N390Y
c.1168A>T
1 paper
NM_000143.4
p.N390D
c.1168A>G
1 paper
NM_000143.4
p.N390H
c.1168A>C
1 paper
NM_000143.4
p.M388delFs
c.1164delC
1 paper
NM_000143.4
p.G389fs
c.1165_1166fs
1 paper
NM_000143.4
p.G389G
c.1167G>A
1 paper
NM_000143.4
p.H391Y
c.1171C>T
1 paper
NM_000143.4
p.H391D
c.1171C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."