Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Y465D

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
3 papers
NM_000143.4
p.Y465D
c.1393T>G
Surrounding Variants
1 paper
NM_000143.4
p.Y465H
c.1393T>C
1 paper
NM_000143.4
p.Y465N
c.1393T>A
1 paper
NM_000143.4
p.Y465F
c.1394A>T
7 papers
NM_000143.4
p.Y465C
c.1394A>G
1 paper
NM_000143.4
p.Y465S
c.1394A>C
1 paper
NM_000143.4
p.Y465_D466insFs
c.1395_1396insAT
1 paper
NM_000143.4
p.G464V
c.1391G>T
1 paper
NM_000143.4
p.G464A
c.1391G>C
1 paper
NM_000143.4
p.G464E
c.1391G>A
1 paper
NM_000143.4
p.G464fs
c.1390_1391fs
3 papers
NM_000143.4
p.G464Splc
c.1391-1G>T
1 paper
NM_000143.4
p.D466Y
c.1396G>T
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