Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.D260Splc

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.D260Splc
c.779-2A>G
Surrounding Variants
2 papers
NM_006843.3
p.D260Splc
c.779-1G>A
4 papers
NM_006843.3
p.D260A
c.779A>C
1 paper
NM_006843.3
p.D260_D261insFs
c.780_781insA
1 paper
NM_006843.3
p.D260insFs
c.780dupT
4 papers
NM_006843.3
p.D261N
c.781G>A
1 paper
NM_006843.3
p.D260delFs
c.780delA
2 papers
NM_006843.3
p.D261G
c.782A>G
6 papers
NM_006843.3
p.D261A
c.782A>C
1 paper
NM_006843.3
p.D261E
c.783T>G
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
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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."