Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Q283L

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.Q283L
c.848A>T
Surrounding Variants
1 paper
NM_006843.3
p.Q283P
c.848A>C
3 papers
NM_006843.3
p.Q283*
c.847C>T
1 paper
NM_006843.3
p.G271_I282del12
c.811_845del36
2 papers
NM_006843.3
p.K284E
c.850A>G
1 paper
NM_006843.3
p.K284Q
c.850A>C
1 paper
NM_006843.3
p.I282S
c.845T>G
2 papers
NM_006843.3
p.I282T
c.845T>C
1 paper
NM_006843.3
p.I282N
c.845T>A
2 papers
NM_006843.3
p.K284R
c.851A>G
3 papers
NM_006843.3
p.K284N
c.852G>T
3 papers
NM_006843.3
p.K284N
c.852G>C
2 papers
NM_006843.3
p.I282V
c.844A>G
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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."