Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.L492I

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.L492I
c.1474C>A
Surrounding Variants
1 paper
NM_000143.4
p.L492F
c.1474C>T
2 papers
NM_000143.4
p.L492V
c.1474C>G
1 paper
NM_000143.4
p.L492fs
c.1474_1475fs
1 paper
NM_000143.4
p.L492R
c.1475T>G
1 paper
NM_000143.4
p.L492P
c.1475T>C
1 paper
NM_000143.4
p.L492H
c.1475T>A
1 paper
NM_000143.4
p.L492delFs
c.1474delG
2 papers
NM_000143.4
p.L492fs
c.1474_1475fs
1 paper
NM_000143.4
p.Y491F
c.1472A>T
3 papers
NM_000143.4
p.Y491C
c.1472A>G
1 paper
NM_000143.4
p.Y491S
c.1472A>C
1 paper
NM_000143.4
p.Y491D
c.1471T>G
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