Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.E267A

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
3 papers
NM_006843.3
p.E267A
c.800A>C
Surrounding Variants
2 papers
NM_006843.3
p.E267V
c.800A>T
1 paper
NM_006843.3
p.E267G
c.800A>G
2 papers
NM_006843.3
p.E267D
c.801G>T
1 paper
NM_006843.3
p.E267_P268insFs
c.801_802insA
2 papers
NM_006843.3
p.E267D
c.801G>C
2 papers
NM_006843.3
p.E267Q
c.799G>C
1 paper
NM_006843.3
p.E267K
c.799G>A
1 paper
NM_006843.3
p.V266V
c.798G>C
1 paper
NM_006843.3
p.V266delFs
c.797delA
2 papers
NM_006843.3
p.P268S
c.802C>T
1 paper
NM_006843.3
p.P268A
c.802C>G
1 paper
NM_006843.3
p.P268T
c.802C>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."