Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M380L

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.M380L
c.1138A>T
Surrounding Variants
1 paper
NM_000143.4
p.M380fs
c.1138_1139fs
2 papers
NM_000143.4
p.M380V
c.1138A>G
1 paper
NM_000143.4
p.M380L
c.1138A>C
4 papers
NM_000143.4
p.M380insFs
c.1138_1139insA
1 paper
NM_000143.4
p.M380R
c.1139T>G
1 paper
NM_000143.4
p.M380T
c.1139T>C
2 papers
NM_000143.4
p.M380K
c.1139T>A
2 papers
NM_000143.4
p.M380delFs
c.1138delT
1 paper
NM_000143.4
p.M380I
c.1140G>T
2 papers
NM_000143.4
p.M380fs
c.1138_1139fs
1 paper
NM_000143.4
p.M380I
c.1140G>C
1 paper
NM_000143.4
p.M380I
c.1140G>A
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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."