Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.M412_I413Splc

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.M412_I413Splc
c.1236+1G>C
Surrounding Variants
1 paper
NM_000143.4
p.M412_I413Splc
c.1236+1G>T
2 papers
NM_000143.4
p.M412_I413Splc
c.1236+1G>A
1 paper
NM_000143.4
p.M412I
c.1236G>T
1 paper
NM_000143.4
p.M412fs
c.1234_1235fs
1 paper
NM_000143.4
p.M412I
c.1236G>C
1 paper
NM_000143.4
p.M412I
c.1236G>A
1 paper
NM_000143.4
p.M412R
c.1235T>G
1 paper
NM_000143.4
p.M412T
c.1235T>C
1 paper
NM_000143.4
p.M412K
c.1235T>A
3 papers
NM_000143.4
p.M412delFs
c.1234delT
1 paper
NM_000143.4
p.M412L
c.1234A>T
1 paper
NM_000143.4
p.M412V
c.1234A>G
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