Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T481A

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.T481A
c.1441A>G
Surrounding Variants
1 paper
NM_000143.4
p.T481S
c.1441A>T
1 paper
NM_000143.4
p.T481P
c.1441A>C
2 papers
NM_000143.4
p.T481I
c.1442C>T
1 paper
NM_000143.4
p.T481S
c.1442C>G
1 paper
NM_000143.4
p.T481N
c.1442C>A
2 papers
NM_000143.4
p.S480fs
c.1438_1439fs
1 paper
NM_000143.4
p.S480L
c.1439C>T
3 papers
NM_000143.4
p.S480*
c.1439C>G
1 paper
NM_000143.4
p.T481T
c.1443C>G
3 papers
NM_000143.4
p.S480*
c.1439C>A
1 paper
NM_000143.4
p.G479insFs
c.1437dupA
5 papers
NM_000143.4
p.K477_G479insFs
c.1430_1437dup8
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