Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L298_I301del4

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.L298_I301del4
c.892_902del12
Surrounding Variants
1 paper
NM_006843.3
p.V302I
c.904G>A
1 paper
NM_006843.3
p.V302D
c.905T>A
1 paper
NM_006843.3
p.V302delFs
c.904delC
1 paper
NM_006843.3
p.I301M
c.903C>G
1 paper
NM_006843.3
p.I301_V302insFs
c.903_904insT
1 paper
NM_006843.3
p.C303R
c.907T>C
2 papers
NM_006843.3
p.C303S
c.907T>A
3 papers
NM_006843.3
p.C303S
c.908G>C
1 paper
NM_006843.3
p.V300V
c.900C>G
1 paper
NM_006843.3
p.V300V
c.900C>A
1 paper
NM_006843.3
p.V300G
c.899T>G
3 papers
NM_006843.3
p.V300A
c.899T>C
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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."