Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L313V

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.L313V
c.937C>G
Surrounding Variants
1 paper
NM_006843.3
p.L313L
c.937C>T
1 paper
NM_006843.3
p.Q312insFs
c.936dupG
1 paper
NM_006843.3
p.L313P
c.938T>C
1 paper
NM_006843.3
p.Q312_L313insFs
c.936_937insT
1 paper
NM_006843.3
p.R314W
c.940C>T
1 paper
NM_006843.3
p.Q312*
c.934C>T
1 paper
NM_006843.3
p.Q312_L313ins7
c.934_938ins21
1 paper
NM_006843.3
p.R314L
c.941G>T
1 paper
NM_006843.3
p.R314Q
c.941G>A
1 paper
NM_006843.3
p.A311A
c.933C>A
1 paper
NM_006843.3
p.A311V
c.932C>T
1 paper
NM_006843.3
p.A311insFs
c.932_933insT
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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."