Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.I487M

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.I487M
c.1461C>G
Surrounding Variants
1 paper
NM_000143.4
p.I487I
c.1461C>T
1 paper
NM_000143.4
p.I487S
c.1460T>G
1 paper
NM_000143.4
p.I487T
c.1460T>C
1 paper
NM_000143.4
p.I487N
c.1460T>A
1 paper
NM_000143.4
p.E488Q
c.1462G>C
2 papers
NM_000143.4
p.E488K
c.1462G>A
1 paper
NM_000143.4
p.E488V
c.1463A>T
1 paper
NM_000143.4
p.I487F
c.1459A>T
1 paper
NM_000143.4
p.E488G
c.1463A>G
1 paper
NM_000143.4
p.I487V
c.1459A>G
1 paper
NM_000143.4
p.E488A
c.1463A>C
1 paper
NM_000143.4
p.I487L
c.1459A>C
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