Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A385A

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.A385A
c.1155C>T
Surrounding Variants
2 papers
NM_000143.4
p.A385V
c.1154C>T
1 paper
NM_000143.4
p.Q386E
c.1156C>G
1 paper
NM_000143.4
p.A385G
c.1154C>G
5 papers
NM_000143.4
p.A385D
c.1154C>A
1 paper
NM_000143.4
p.Q386K
c.1156C>A
1 paper
NM_000143.4
p.A385S
c.1153G>T
1 paper
NM_000143.4
p.A385P
c.1153G>C
1 paper
NM_000143.4
p.A385T
c.1153G>A
1 paper
NM_000143.4
p.Q386L
c.1157A>T
5 papers
NM_000143.4
p.Q386R
c.1157A>G
3 papers
NM_000143.4
p.Q386P
c.1157A>C
2 papers
NM_000143.4
p.Q386H
c.1158A>T
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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."