Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.T375I

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.T375I
c.1124C>T
Surrounding Variants
1 paper
NM_000143.4
p.T375S
c.1124C>G
1 paper
NM_000143.4
p.T375N
c.1124C>A
2 papers
NM_000143.4
p.T375delFs
c.1123delT
2 papers
NM_000143.4
p.T375fs
c.1123_1124fs
1 paper
NM_000143.4
p.T375S
c.1123A>T
1 paper
NM_000143.4
p.T375A
c.1123A>G
1 paper
NM_000143.4
p.T375P
c.1123A>C
3 papers
NM_000143.4
p.Q376*
c.1126C>T
1 paper
NM_000143.4
p.Q376E
c.1126C>G
1 paper
NM_000143.4
p.Q376K
c.1126C>A
1 paper
NM_000143.4
p.P374L
c.1121C>T
1 paper
NM_000143.4
p.P374R
c.1121C>G
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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."