Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A469T

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.A469T
c.1405G>A
Surrounding Variants
1 paper
NM_000143.4
p.A469S
c.1405G>T
1 paper
NM_000143.4
p.A469P
c.1405G>C
1 paper
NM_000143.4
p.A469V
c.1406C>T
1 paper
NM_000143.4
p.A469G
c.1406C>G
1 paper
NM_000143.4
p.A469E
c.1406C>A
2 papers
NM_000143.4
p.A468fs
c.1402_1403fs
1 paper
NM_000143.4
p.A468V
c.1403C>T
1 paper
NM_000143.4
p.A468G
c.1403C>G
1 paper
NM_000143.4
p.A468E
c.1403C>A
1 paper
NM_000143.4
p.A468S
c.1402G>T
1 paper
NM_000143.4
p.A468P
c.1402G>C
1 paper
NM_000143.4
p.A468T
c.1402G>A
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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."