Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H135Q

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.H135Q
c.405T>A
Surrounding Variants
1 paper
NM_000143.4
p.H135Q
c.405T>G
8 papers
NM_000143.4
p.H135R
c.404A>G
2 papers
NM_000143.4
p.H135P
c.404A>C
2 papers
NM_000143.4
p.F136S
c.407T>C
1 paper
NM_000143.4
p.H135Y
c.403C>T
1 paper
NM_000143.4
p.D134_H135delins
c.402_403delinsAT
1 paper
NM_000143.4
p.D134D
c.402T>C
2 papers
NM_000143.4
p.P137S
c.409C>T
1 paper
NM_000143.4
p.D134V
c.401A>T
1 paper
NM_000143.4
p.D134G
c.401A>G
1 paper
NM_000143.4
p.D134N
c.400G>A
4 papers
NM_000143.4
p.L132_N133delFs
c.395_399del5
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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."