Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.C377S

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.C377S
c.1129T>A
Surrounding Variants
1 paper
NM_000143.4
p.C377G
c.1129T>G
1 paper
NM_000143.4
p.C377R
c.1129T>C
1 paper
NM_000143.4
p.C377F
c.1130G>T
1 paper
NM_000143.4
p.Q376H
c.1128G>T
1 paper
NM_000143.4
p.C377S
c.1130G>C
1 paper
NM_000143.4
p.Q376H
c.1128G>C
2 papers
NM_000143.4
p.C377Y
c.1130G>A
1 paper
NM_000143.4
p.C377W
c.1131T>G
1 paper
NM_000143.4
p.Q376L
c.1127A>T
1 paper
NM_000143.4
p.Q376R
c.1127A>G
23 papers
NM_000143.4
p.Q376P
c.1127A>C
1 paper
NM_000143.4
p.E378*
c.1132G>T
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."