Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.V387G

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.V387G
c.1160T>G
Surrounding Variants
1 paper
NM_000143.4
p.V387A
c.1160T>C
1 paper
NM_000143.4
p.V387D
c.1160T>A
1 paper
NM_000143.4
p.V387F
c.1159G>T
1 paper
NM_000143.4
p.V387L
c.1159G>C
1 paper
NM_000143.4
p.V387I
c.1159G>A
1 paper
NM_000143.4
p.V387V
c.1161C>T
1 paper
NM_000143.4
p.Q386_V387del1
c.1158_1160delACT
2 papers
NM_000143.4
p.Q386H
c.1158A>T
1 paper
NM_000143.4
p.M388L
c.1162A>T
1 paper
NM_000143.4
p.M388V
c.1162A>G
2 papers
NM_000143.4
p.Q386H
c.1158A>C
1 paper
NM_000143.4
p.M388L
c.1162A>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."