Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.D466E

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.D466E
c.1398C>A
Surrounding Variants
1 paper
NM_000143.4
p.D466E
c.1398C>G
1 paper
NM_000143.4
p.D466fs
c.1396_1397fs
1 paper
NM_000143.4
p.K467delins
c.1399_1400delinsTA
1 paper
NM_000143.4
p.D466V
c.1397A>T
1 paper
NM_000143.4
p.K467E
c.1399A>G
1 paper
NM_000143.4
p.D466G
c.1397A>G
1 paper
NM_000143.4
p.K467Q
c.1399A>C
1 paper
NM_000143.4
p.D466A
c.1397A>C
1 paper
NM_000143.4
p.D466Y
c.1396G>T
2 papers
NM_000143.4
p.Y465insFs
c.1394_1395dupAT
1 paper
NM_000143.4
p.D466H
c.1396G>C
1 paper
NM_000143.4
p.D466N
c.1396G>A
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