Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S480A

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.S480A
c.1438T>G
Surrounding Variants
1 paper
NM_000143.4
p.G479insFs
c.1437dupA
5 papers
NM_000143.4
p.K477_G479insFs
c.1430_1437dup8
1 paper
NM_000143.4
p.S480P
c.1438T>C
1 paper
NM_000143.4
p.S480T
c.1438T>A
1 paper
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
3 papers
NM_000143.4
p.S480*
c.1439C>A
1 paper
NM_000143.4
p.G479V
c.1436G>T
1 paper
NM_000143.4
p.G479A
c.1436G>C
1 paper
NM_000143.4
p.G479E
c.1436G>A
2 papers
NM_000143.4
p.S480fs
c.1438_1439fs
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