Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.P410S

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.P410S
c.1228C>T
Surrounding Variants
1 paper
NM_000143.4
p.P410A
c.1228C>G
1 paper
NM_000143.4
p.P410T
c.1228C>A
1 paper
NM_000143.4
p.K409N
c.1227G>T
1 paper
NM_000143.4
p.K409N
c.1227G>C
1 paper
NM_000143.4
p.K409K
c.1227G>A
3 papers
NM_000143.4
p.P410L
c.1229C>T
1 paper
NM_000143.4
p.P410R
c.1229C>G
1 paper
NM_000143.4
p.P410Q
c.1229C>A
1 paper
NM_000143.4
p.K409M
c.1226A>T
1 paper
NM_000143.4
p.K409R
c.1226A>G
1 paper
NM_000143.4
p.K409T
c.1226A>C
2 papers
NM_000143.4
p.M411L
c.1231A>T
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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."