Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.R101*

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
19 papers
NM_000143.4
p.R101*
c.301C>T
Surrounding Variants
1 paper
NM_000143.4
p.R101L
c.302G>T
1 paper
NM_000143.4
p.K100N
c.300G>T
3 papers
NM_000143.4
p.R101P
c.302G>C
2 papers
NM_000143.4
p.K100N
c.300G>C
10 papers
NM_000143.4
p.R101Q
c.302G>A
1 paper
NM_000143.4
p.K100K
c.300G>A
2 papers
NM_000143.4
p.L99_R101delFs
c.295_301del7
1 paper
NM_000143.4
p.K100delFs
c.298delT
1 paper
NM_000143.4
p.K100R
c.299A>G
2 papers
NM_000143.4
p.R101fs
c.301_302fs
2 papers
NM_000143.4
p.K100*
c.298A>T
2 papers
NM_000143.4
p.L99F
c.297G>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."