Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M336V

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.M336V
c.1006A>G
Surrounding Variants
1 paper
NM_000143.4
p.M336L
c.1006A>T
1 paper
NM_000143.4
p.M336L
c.1006A>C
2 papers
NM_000143.4
p.M336R
c.1007T>G
1 paper
NM_000143.4
p.L335_M336insFs
c.1005_1006insC
1 paper
NM_000143.4
p.L335_M336insFs
c.1005_1006insAA
1 paper
NM_000143.4
p.L335insFs
c.1004_1005insC
4 papers
NM_000143.4
p.L335P
c.1004T>C
1 paper
NM_000143.4
p.M336I
c.1008G>T
1 paper
NM_000143.4
p.M336I
c.1008G>C
1 paper
NM_000143.4
p.M336I
c.1008G>A
2 papers
NM_000143.4
p.L335L
c.1003C>T
4 papers
NM_000143.4
p.S334fs
c.1000_1001fs
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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."