Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S171C

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.S171C
c.511A>T
Surrounding Variants
1 paper
NM_000143.4
p.G166_G170del5
c.496_509del15
3 papers
NM_000143.4
p.S171N
c.512G>A
1 paper
NM_000143.4
p.G170V
c.509G>T
1 paper
NM_000143.4
p.G170R
c.508G>C
1 paper
NM_000143.4
p.K172E
c.514A>G
1 paper
NM_000143.4
p.L169P
c.506T>C
1 paper
NM_000143.4
p.E168insFs
c.503dupA
2 papers
NM_000143.4
p.E168delFs
c.504delT
1 paper
NM_000143.4
p.I173L
c.517A>T
1 paper
NM_000143.4
p.I173L
c.517A>C
2 papers
NM_000143.4
p.E168fs
c.502_503fs
1 paper
NM_000143.4
p.E168V
c.503A>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."