Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.E5*

SDS

8,783 papers

RefSeq Summary

This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofact...

Pfam Domains

PALPaa 5–304UCSCPyridoxal-phosphate dependent enzyme

Gene Aliases

HGNC Name

serine dehydratase

HGNC Alias Symbol

SDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006843.3
p.E5*
c.13G>T
Surrounding Variants
1 paper
NM_006843.3
p.E5insFs
c.13_14insTG
1 paper
NM_006843.3
p.G4insFs
c.12dupA
1 paper
NM_006843.3
p.E5insFs
c.13_14insTA
5 papers
NM_006843.3
p.E5Q
c.13G>C
10 papers
NM_006843.3
p.E5K
c.13G>A
3 papers
NM_006843.3
p.E5V
c.14A>T
1 paper
NM_006843.3
p.G4G
c.12A>T
2 papers
NM_006843.3
p.G4G
c.12A>G
1 paper
NM_006843.3
p.E5G
c.14A>G
6 papers
NM_006843.3
p.E5A
c.14A>C
2 papers
NM_006843.3
p.G4G
c.12A>C
1 paper
NM_006843.3
p.E5ins1
c.14_15insCTT
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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."