Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G389R

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.G389R
c.1165G>C
Surrounding Variants
1 paper
NM_000143.4
p.G389W
c.1165G>T
3 papers
NM_000143.4
p.G389R
c.1165G>A
1 paper
NM_000143.4
p.G389V
c.1166G>T
1 paper
NM_000143.4
p.M388I
c.1164G>T
1 paper
NM_000143.4
p.G389A
c.1166G>C
1 paper
NM_000143.4
p.M388I
c.1164G>C
1 paper
NM_000143.4
p.G389E
c.1166G>A
1 paper
NM_000143.4
p.M388I
c.1164G>A
1 paper
NM_000143.4
p.M388R
c.1163T>G
1 paper
NM_000143.4
p.M388T
c.1163T>C
1 paper
NM_000143.4
p.M388K
c.1163T>A
2 papers
NM_000143.4
p.M388delFs
c.1162delT
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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."