Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.I231T

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.I231T
c.692T>C
Surrounding Variants
1 paper
NM_000143.4
p.I231delFs
c.691delT
2 papers
NM_000143.4
p.K230del1
c.688_690delCTT
1 paper
NM_000143.4
p.I231fs
c.691_692fs
1 paper
NM_000143.4
p.G232*
c.694G>T
1 paper
NM_000143.4
p.K230N
c.690G>T
1 paper
NM_000143.4
p.G232R
c.694G>C
1 paper
NM_000143.4
p.K230N
c.690G>C
1 paper
NM_000143.4
p.G232R
c.694G>A
1 paper
NM_000143.4
p.K223_I231del0
c.667_693del27
1 paper
NM_000143.4
p.G232V
c.695G>T
1 paper
NM_000143.4
p.G232E
c.695G>A
1 paper
NM_000143.4
p.K230M
c.689A>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."