Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.N340D

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
3 papers
NM_000143.4
p.N340D
c.1018A>G
Surrounding Variants
9 papers
NM_000143.4
p.N340K
c.1020T>G
12 papers
NM_000143.4
p.N340K
c.1020T>A
4 papers
NM_000143.4
p.D341Y
c.1021G>T
7 papers
NM_000143.4
p.D341N
c.1021G>A
1 paper
NM_000143.4
p.A339T
c.1015G>A
1 paper
NM_000143.4
p.K337_N340del4
c.1009_1019del12
1 paper
NM_000143.4
p.I338delFs
c.1013_1014delTA
1 paper
NM_000143.4
p.D341V
c.1022A>T
2 papers
NM_000143.4
p.D341G
c.1022A>G
1 paper
NM_000143.4
p.D341A
c.1022A>C
1 paper
NM_000143.4
p.D341E
c.1023T>G
1 paper
NM_000143.4
p.D341D
c.1023T>C
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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."