Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.T323A

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.T323A
c.967A>G
Surrounding Variants
1 paper
NM_006843.3
p.T323S
c.967A>T
1 paper
NM_006843.3
p.T323fs
c.967_968fs
1 paper
NM_006843.3
p.M322I
c.966G>C
1 paper
NM_006843.3
p.Q319_M322delins
c.957_966delinsT
2 papers
NM_006843.3
p.T323I
c.968C>T
1 paper
NM_006843.3
p.M322K
c.965T>A
1 paper
NM_006843.3
p.T323delFs
c.968delG
2 papers
NM_006843.3
p.M322V
c.964A>G
1 paper
NM_006843.3
p.G321insFs
c.961_962insG
1 paper
NM_006843.3
p.N324S
c.971A>G
1 paper
NM_006843.3
p.N324delFs
c.970_971delTT
1 paper
NM_006843.3
p.G321V
c.962G>T
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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."