Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.D219N

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.D219N
c.655G>A
Surrounding Variants
1 paper
NM_000143.4
p.L218R
c.653T>G
2 papers
NM_000143.4
p.L218P
c.653T>C
1 paper
NM_000143.4
p.A220S
c.658G>T
1 paper
NM_000143.4
p.A220T
c.658G>A
1 paper
NM_000143.4
p.L218F
c.652C>T
1 paper
NM_000143.4
p.A220V
c.659C>T
1 paper
NM_000143.4
p.A220G
c.659C>G
1 paper
NM_000143.4
p.A220delins
c.658_659delinsTT
1 paper
NM_000143.4
p.A217T
c.649G>A
1 paper
NM_000143.4
p.K221E
c.661A>G
1 paper
NM_000143.4
p.D216E
c.648T>G
1 paper
NM_000143.4
p.D216E
c.648T>A
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."