Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K502insFs

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.K502insFs
c.1506dupA
Surrounding Variants
1 paper
NM_000143.4
p.P503S
c.1507C>T
3 papers
NM_000143.4
p.P503A
c.1507C>G
1 paper
NM_000143.4
p.P503T
c.1507C>A
1 paper
NM_000143.4
p.P503L
c.1508C>T
2 papers
NM_000143.4
p.P503R
c.1508C>G
1 paper
NM_000143.4
p.P503H
c.1508C>A
1 paper
NM_000143.4
p.K502N
c.1506A>T
1 paper
NM_000143.4
p.K502N
c.1506A>C
1 paper
NM_000143.4
p.P503ins2
c.1508_1509ins6
1 paper
NM_000143.4
p.P503fs
c.1507_1508fs
1 paper
NM_000143.4
p.K502I
c.1505A>T
1 paper
NM_000143.4
p.K502R
c.1505A>G
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