Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K510T

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.K510T
c.1529A>C
Surrounding Variants
1 paper
NM_000143.4
p.K510M
c.1529A>T
1 paper
NM_000143.4
p.K510R
c.1529A>G
1 paper
NM_000143.4
p.K510N
c.1530G>T
1 paper
NM_000143.4
p.K510N
c.1530G>C
1 paper
NM_000143.4
p.K510E
c.1528A>G
1 paper
NM_000143.4
p.K510Q
c.1528A>C
2 papers
NM_000143.4
p.P509L
c.1526C>T
1 paper
NM_000143.4
p.P509R
c.1526C>G
1 paper
NM_000143.4
p.P509Q
c.1526C>A
2 papers
NM_000143.4
p.P509S
c.1525C>T
1 paper
NM_000143.4
p.P509A
c.1525C>G
1 paper
NM_000143.4
p.P509T
c.1525C>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."