Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.P359P

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.P359P
c.1077T>C
Surrounding Variants
1 paper
NM_000143.4
p.P359P
c.1077T>A
1 paper
NM_000143.4
p.P359A
c.1075C>G
1 paper
NM_000143.4
p.L358V
c.1072T>G
1 paper
NM_000143.4
p.L358L
c.1072T>C
1 paper
NM_000143.4
p.L356_I357delFs
c.1068_1071del4
1 paper
NM_000143.4
p.N361I
c.1082A>T
1 paper
NM_000143.4
p.N361S
c.1082A>G
1 paper
NM_000143.4
p.N361T
c.1082A>C
2 papers
NM_000143.4
p.N361fs
c.1081_1082fs
7 papers
NM_000143.4
p.N361K
c.1083T>G
8 papers
NM_000143.4
p.N361K
c.1083T>A
2 papers
NM_000143.4
p.N361delFs
c.1082delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."