Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M195I

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.M195I
c.585G>C
Surrounding Variants
1 paper
NM_000143.4
p.M195I
c.585G>T
1 paper
NM_000143.4
p.M195I
c.585G>A
13 papers
NM_000143.4
p.M195T
c.584T>C
1 paper
NM_000143.4
p.T193_M195del0
c.578_583del6
1 paper
NM_000143.4
p.H196Y
c.586C>T
1 paper
NM_000143.4
p.H196L
c.587A>T
1 paper
NM_000143.4
p.M195L
c.583A>T
13 papers
NM_000143.4
p.M195V
c.583A>G
10 papers
NM_000143.4
p.H196R
c.587A>G
3 papers
NM_000143.4
p.M195L
c.583A>C
1 paper
NM_000143.4
p.H196P
c.587A>C
1 paper
NM_000143.4
p.M195_H196insT
c.583_587ins3
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."