Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.H402Q

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.H402Q
c.1206T>G
Surrounding Variants
3 papers
NM_000143.4
p.H402fs
c.1204_1205fs
1 paper
NM_000143.4
p.H402Q
c.1206T>A
4 papers
NM_000143.4
p.H402delFs
c.1205delT
1 paper
NM_000143.4
p.F403V
c.1207T>G
1 paper
NM_000143.4
p.F403L
c.1207T>C
1 paper
NM_000143.4
p.F403I
c.1207T>A
1 paper
NM_000143.4
p.H402L
c.1205A>T
1 paper
NM_000143.4
p.H402R
c.1205A>G
1 paper
NM_000143.4
p.H402P
c.1205A>C
1 paper
NM_000143.4
p.F403C
c.1208T>G
2 papers
NM_000143.4
p.F403S
c.1208T>C
1 paper
NM_000143.4
p.F403Y
c.1208T>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."