Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K477_N478insK

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.K477_N478insK
c.1429_1433ins3
Surrounding Variants
1 paper
NM_000143.4
p.K477*
c.1429A>T
1 paper
NM_000143.4
p.K477E
c.1429A>G
1 paper
NM_000143.4
p.K477Q
c.1429A>C
1 paper
NM_000143.4
p.H476H
c.1428C>T
1 paper
NM_000143.4
p.H476Q
c.1428C>G
1 paper
NM_000143.4
p.H476fs
c.1426_1427fs
1 paper
NM_000143.4
p.H476Q
c.1428C>A
1 paper
NM_000143.4
p.K477I
c.1430A>T
1 paper
NM_000143.4
p.K477R
c.1430A>G
1 paper
NM_000143.4
p.K477T
c.1430A>C
1 paper
NM_000143.4
p.K477N
c.1431A>T
1 paper
NM_000143.4
p.H476L
c.1427A>T
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