Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Q78K

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
5 papers
NM_006843.3
p.Q78K
c.232C>A
Surrounding Variants
2 papers
NM_006843.3
p.R77S
c.231G>T
1 paper
NM_006843.3
p.R77S
c.231G>C
5 papers
NM_006843.3
p.R77R
c.231G>A
4 papers
NM_006843.3
p.Q78L
c.233A>T
4 papers
NM_006843.3
p.Q78R
c.233A>G
2 papers
NM_006843.3
p.Q78P
c.233A>C
1 paper
NM_006843.3
p.R77T
c.230G>C
6 papers
NM_006843.3
p.R77K
c.230G>A
7 papers
NM_006843.3
p.Q78H
c.234A>T
2 papers
NM_006843.3
p.Q78Q
c.234A>G
2 papers
NM_006843.3
p.Q78H
c.234A>C
3 papers
NM_006843.3
p.L79F
c.235C>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."