Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.E262D

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
3 papers
NM_006843.3
p.E262D
c.786G>T
Surrounding Variants
3 papers
NM_006843.3
p.E262D
c.786G>C
3 papers
NM_006843.3
p.E262G
c.785A>G
1 paper
NM_006843.3
p.K263E
c.787A>G
5 papers
NM_006843.3
p.E262A
c.785A>C
1 paper
NM_006843.3
p.E262insFs
c.785_786insG
1 paper
NM_006843.3
p.K263insFs
c.787_788insC
1 paper
NM_006843.3
p.E262delFs
c.786delC
1 paper
NM_006843.3
p.E262*
c.784G>T
5 papers
NM_006843.3
p.E262Q
c.784G>C
4 papers
NM_006843.3
p.E262K
c.784G>A
1 paper
NM_006843.3
p.K263R
c.788A>G
1 paper
NM_006843.3
p.E262_K263insFs
c.784_787dup4
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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."