Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.H8Y

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
3 papers
NM_006843.3
p.H8Y
c.22C>T
Surrounding Variants
3 papers
NM_006843.3
p.H8D
c.22C>G
5 papers
NM_006843.3
p.H8N
c.22C>A
2 papers
NM_006843.3
p.L7delFs
c.21delC
1 paper
NM_006843.3
p.L7_H8Fs
c.20_22delinsCFs
1 paper
NM_006843.3
p.H8fs
c.22_23fs
1 paper
NM_006843.3
p.L7L
c.21G>T
1 paper
NM_006843.3
p.L7fs
c.19_20fs
1 paper
NM_006843.3
p.L7L
c.21G>C
4 papers
NM_006843.3
p.L7L
c.21G>A
1 paper
NM_006843.3
p.H8L
c.23A>T
3 papers
NM_006843.3
p.H8R
c.23A>G
4 papers
NM_006843.3
p.H8P
c.23A>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."