Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q237_D238insT

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
2 papers
NM_000143.4
p.Q237_D238insT
c.709_713ins3
Surrounding Variants
2 papers
NM_000143.4
p.Q237R
c.710A>G
1 paper
NM_000143.4
p.T236I
c.707C>T
1 paper
NM_000143.4
p.D238Y
c.712G>T
3 papers
NM_000143.4
p.D238H
c.712G>C
1 paper
NM_000143.4
p.D238N
c.712G>A
3 papers
NM_000143.4
p.T236A
c.706A>G
1 paper
NM_000143.4
p.T236_Q237insAG
c.706_710ins6
1 paper
NM_000143.4
p.H235H
c.705T>C
1 paper
NM_000143.4
p.D238A
c.713A>C
1 paper
NM_000143.4
p.H235L
c.704A>T
4 papers
NM_000143.4
p.H235R
c.704A>G
1 paper
NM_000143.4
p.H235P
c.704A>C
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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."