Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L507Q

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.L507Q
c.1520T>A
Surrounding Variants
1 paper
NM_000143.4
p.L507R
c.1520T>G
4 papers
NM_000143.4
p.L507P
c.1520T>C
1 paper
NM_000143.4
p.L507V
c.1519C>G
1 paper
NM_000143.4
p.L507M
c.1519C>A
1 paper
NM_000143.4
p.G508C
c.1522G>T
1 paper
NM_000143.4
p.M506I
c.1518G>T
1 paper
NM_000143.4
p.G508R
c.1522G>C
1 paper
NM_000143.4
p.M506I
c.1518G>C
1 paper
NM_000143.4
p.G508S
c.1522G>A
1 paper
NM_000143.4
p.M506I
c.1518G>A
1 paper
NM_000143.4
p.M506R
c.1517T>G
1 paper
NM_000143.4
p.M506T
c.1517T>C
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."