Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.I471S

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.I471S
c.1412T>G
Surrounding Variants
1 paper
NM_000143.4
p.I471T
c.1412T>C
1 paper
NM_000143.4
p.I471N
c.1412T>A
1 paper
NM_000143.4
p.I471M
c.1413T>G
1 paper
NM_000143.4
p.I471F
c.1411A>T
2 papers
NM_000143.4
p.I471V
c.1411A>G
1 paper
NM_000143.4
p.I471L
c.1411A>C
1 paper
NM_000143.4
p.A472S
c.1414G>T
1 paper
NM_000143.4
p.K470N
c.1410G>T
1 paper
NM_000143.4
p.A472P
c.1414G>C
1 paper
NM_000143.4
p.K470N
c.1410G>C
2 papers
NM_000143.4
p.A472T
c.1414G>A
1 paper
NM_000143.4
p.K470K
c.1410G>A
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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."