Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A316D

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
4 papers
NM_000143.4
p.A316D
c.947C>A
Surrounding Variants
3 papers
NM_000143.4
p.A316V
c.947C>T
1 paper
NM_000143.4
p.L315delFs
c.944_945delCA
1 paper
NM_000143.4
p.L315L
c.945G>T
1 paper
NM_000143.4
p.L315fs
c.943_944fs
1 paper
NM_000143.4
p.T307_A316del10
c.919_947del30
2 papers
NM_000143.4
p.L315P
c.944T>C
1 paper
NM_000143.4
p.A317V
c.950C>T
1 paper
NM_000143.4
p.A314fs
c.940_941fs
1 paper
NM_000143.4
p.A314A
c.942T>G
1 paper
NM_000143.4
p.A314A
c.942T>C
17 papers
NM_000143.4
p.H318Y
c.952C>T
1 paper
NM_000143.4
p.A314G
c.941C>G
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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."