Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T493S

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.T493S
c.1477A>T
Surrounding Variants
1 paper
NM_000143.4
p.T493A
c.1477A>G
1 paper
NM_000143.4
p.T493P
c.1477A>C
3 papers
NM_000143.4
p.L492delFs
c.1475_1476delGA
1 paper
NM_000143.4
p.T493I
c.1478C>T
1 paper
NM_000143.4
p.T493R
c.1478C>G
2 papers
NM_000143.4
p.L492fs
c.1474_1475fs
2 papers
NM_000143.4
p.T493K
c.1478C>A
1 paper
NM_000143.4
p.L492R
c.1475T>G
1 paper
NM_000143.4
p.L492P
c.1475T>C
1 paper
NM_000143.4
p.L492H
c.1475T>A
1 paper
NM_000143.4
p.L492delFs
c.1474delG
2 papers
NM_000143.4
p.T493T
c.1479A>G
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."