Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.V106A

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.V106A
c.317T>C
Surrounding Variants
3 papers
NM_000143.4
p.V106delFs
c.316delC
1 paper
NM_000143.4
p.A103_V106delFs
c.307_316del10
2 papers
NM_000143.4
p.V106fs
c.316_317fs
1 paper
NM_000143.4
p.N107I
c.320A>T
1 paper
NM_000143.4
p.E105G
c.314A>G
8 papers
NM_000143.4
p.N107T
c.320A>C
2 papers
NM_000143.4
p.R101_N107delFs
c.301_319del19
1 paper
NM_000143.4
p.E105K
c.313G>A
1 paper
NM_000143.4
p.N107K
c.321C>G
1 paper
NM_000143.4
p.N107K
c.321C>A
1 paper
NM_000143.4
p.A104A
c.312T>C
3 papers
NM_000143.4
p.Q108*
c.322C>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."