Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K328E

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
2 papers
NM_006843.3
p.K328E
c.982A>G
Surrounding Variants
2 papers
NM_006843.3
p.K328Q
c.982A>C
1 paper
NM_006843.3
p.P327P
c.981C>T
1 paper
NM_006843.3
p.K328R
c.983A>G
1 paper
NM_006843.3
p.K328insFs
c.983_984insAC
1 paper
NM_006843.3
p.K328N
c.984G>C
1 paper
NM_006843.3
p.P327L
c.980C>T
1 paper
NM_006843.3
p.L326_P327delFs
c.978_979delGC
1 paper
NM_006843.3
p.P327S
c.979C>T
2 papers
NM_006843.3
p.P327A
c.979C>G
1 paper
NM_006843.3
p.L326F
c.978G>T
1 paper
NM_006843.3
p.L326F
c.978G>C
1 paper
NM_006843.3
p.*329*
c.986G>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."