Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.V383L

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.V383L
c.1147G>C
Surrounding Variants
2 papers
NM_000143.4
p.V383F
c.1147G>T
1 paper
NM_000143.4
p.V383I
c.1147G>A
1 paper
NM_000143.4
p.V383G
c.1148T>G
1 paper
NM_000143.4
p.V383A
c.1148T>C
1 paper
NM_000143.4
p.V383D
c.1148T>A
1 paper
NM_000143.4
p.M382I
c.1146G>T
1 paper
NM_000143.4
p.M382I
c.1146G>C
1 paper
NM_000143.4
p.M382I
c.1146G>A
2 papers
NM_000143.4
p.M382R
c.1145T>G
1 paper
NM_000143.4
p.M382T
c.1145T>C
1 paper
NM_000143.4
p.M382K
c.1145T>A
1 paper
NM_000143.4
p.A384S
c.1150G>T
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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."