Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I264L

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.I264L
c.790A>C
Surrounding Variants
4 papers
NM_006843.3
p.I264V
c.790A>G
1 paper
NM_006843.3
p.I264insFs
c.791_792insG
1 paper
NM_006843.3
p.I264S
c.791T>G
1 paper
NM_006843.3
p.I264M
c.792C>G
1 paper
NM_006843.3
p.K263R
c.788A>G
1 paper
NM_006843.3
p.E262_K263insFs
c.784_787dup4
2 papers
NM_006843.3
p.L265L
c.793C>T
1 paper
NM_006843.3
p.L265V
c.793C>G
2 papers
NM_006843.3
p.L265M
c.793C>A
1 paper
NM_006843.3
p.K263E
c.787A>G
1 paper
NM_006843.3
p.K263insFs
c.787_788insC
1 paper
NM_006843.3
p.E262delFs
c.786delC
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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."