Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q185_S186Splc

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.Q185_S186Splc
c.556-1G>C
Surrounding Variants
1 paper
NM_000143.4
p.Q185_S186Splc
c.556-1G>T
8 papers
NM_000143.4
p.Q185_S186Splc
c.556-2A>T
1 paper
NM_000143.4
p.S186C
c.556A>T
3 papers
NM_000143.4
p.Q185_S186Splc
c.556-2A>G
1 paper
NM_000143.4
p.S186I
c.557G>T
5 papers
NM_000143.4
p.S186N
c.557G>A
1 paper
NM_000143.4
p.Q185_S186Splc
c.556-3C>T
1 paper
NM_000143.4
p.S186fs
c.556_557fs
1 paper
NM_000143.4
p.S186delFs
c.557delC
1 paper
NM_000143.4
p.S186delFs
c.556_557delCT
5 papers
NM_000143.4
p.Q185_S186Splc
c.556-4A>G
1 paper
NM_000143.4
p.Q185_S186Splc
c.556-5A>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."