Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K100K

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.K100K
c.300G>A
Surrounding Variants
1 paper
NM_006843.3
p.K100delFs
c.298delT
1 paper
NM_006843.3
p.N101Y
c.301A>T
4 papers
NM_006843.3
p.N101D
c.301A>G
1 paper
NM_006843.3
p.K100R
c.299A>G
5 papers
NM_006843.3
p.K100*
c.298A>T
1 paper
NM_006843.3
p.N101I
c.302A>T
6 papers
NM_006843.3
p.K100E
c.298A>G
1 paper
NM_006843.3
p.N101S
c.302A>G
1 paper
NM_006843.3
p.N101T
c.302A>C
2 papers
NM_006843.3
p.L99delFs
c.297delG
2 papers
NM_006843.3
p.N101K
c.303T>A
1 paper
NM_006843.3
p.N101delFs
c.301delT
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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."