Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.E495_Q496delFs

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
2 papers
NM_000143.4
p.E495_Q496delFs
c.1484_1488del5
Surrounding Variants
1 paper
NM_000143.4
p.F497V
c.1489T>G
1 paper
NM_000143.4
p.F497L
c.1489T>C
1 paper
NM_000143.4
p.F497I
c.1489T>A
1 paper
NM_000143.4
p.F497C
c.1490T>G
3 papers
NM_000143.4
p.F497S
c.1490T>C
1 paper
NM_000143.4
p.F497Y
c.1490T>A
1 paper
NM_000143.4
p.Q496H
c.1488G>T
1 paper
NM_000143.4
p.Q496H
c.1488G>C
1 paper
NM_000143.4
p.F497fs
c.1489_1490fs
1 paper
NM_000143.4
p.F497L
c.1491T>G
1 paper
NM_000143.4
p.F497L
c.1491T>A
1 paper
NM_000143.4
p.Q496L
c.1487A>T
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