Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M368I

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.M368I
c.1104G>A
Surrounding Variants
1 paper
NM_000143.4
p.M368I
c.1104G>T
1 paper
NM_000143.4
p.M368I
c.1104G>C
1 paper
NM_000143.4
p.M368R
c.1103T>G
5 papers
NM_000143.4
p.M368T
c.1103T>C
1 paper
NM_000143.4
p.M368K
c.1103T>A
6 papers
NM_000143.4
p.P369S
c.1105C>T
1 paper
NM_000143.4
p.P369A
c.1105C>G
1 paper
NM_000143.4
p.P369T
c.1105C>A
1 paper
NM_000143.4
p.P369L
c.1106C>T
1 paper
NM_000143.4
p.P369R
c.1106C>G
1 paper
NM_000143.4
p.P369Q
c.1106C>A
2 papers
NM_000143.4
p.M368_P369delins
c.1104_1106delinsACT
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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."