Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L320M

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.L320M
c.958C>A
Surrounding Variants
1 paper
NM_006843.3
p.L320L
c.958C>T
1 paper
NM_006843.3
p.L320P
c.959T>C
2 papers
NM_006843.3
p.Q319L
c.956A>T
1 paper
NM_006843.3
p.Q319R
c.956A>G
1 paper
NM_006843.3
p.G321C
c.961G>T
1 paper
NM_006843.3
p.G321S
c.961G>A
1 paper
NM_006843.3
p.G321V
c.962G>T
1 paper
NM_006843.3
p.G321A
c.962G>C
1 paper
NM_006843.3
p.G321insFs
c.961_962insG
3 papers
NM_006843.3
p.E318A
c.953A>C
1 paper
NM_006843.3
p.E318Q
c.952G>C
5 papers
NM_006843.3
p.E318K
c.952G>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."