Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H176L

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.H176L
c.527A>T
Surrounding Variants
1 paper
NM_000143.4
p.H176R
c.527A>G
1 paper
NM_000143.4
p.H176H
c.528T>C
1 paper
NM_000143.4
p.H176Y
c.526C>T
1 paper
NM_000143.4
p.V175fs
c.523_524fs
1 paper
NM_000143.4
p.V175V
c.525G>A
1 paper
NM_000143.4
p.V175delFs
c.524delA
1 paper
NM_000143.4
p.P177S
c.529C>T
1 paper
NM_000143.4
p.P177_N178ins4
c.529_533ins12
3 papers
NM_000143.4
p.P177L
c.530C>T
1 paper
NM_000143.4
p.P177R
c.530C>G
1 paper
NM_000143.4
p.V175L
c.523G>C
1 paper
NM_000143.4
p.V175M
c.523G>A
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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."