Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A275_Q286del12

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.A275_Q286del12
c.823_857del36
Surrounding Variants
2 papers
NM_006843.3
p.L287P
c.860T>C
2 papers
NM_006843.3
p.L287L
c.861G>T
5 papers
NM_006843.3
p.Q286R
c.857A>G
1 paper
NM_006843.3
p.Q286P
c.857A>C
4 papers
NM_006843.3
p.E288Q
c.862G>C
5 papers
NM_006843.3
p.E288K
c.862G>A
2 papers
NM_006843.3
p.Q286*
c.856C>T
1 paper
NM_006843.3
p.L285L
c.855C>A
1 paper
NM_006843.3
p.K284_L285delFs
c.851_854del4
1 paper
NM_006843.3
p.E288G
c.863A>G
3 papers
NM_006843.3
p.E288A
c.863A>C
2 papers
NM_006843.3
p.E288D
c.864G>T
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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."