Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.H280D

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.H280D
c.838C>G
Surrounding Variants
1 paper
NM_006843.3
p.H280Y
c.838C>T
1 paper
NM_006843.3
p.A272_S279del0
c.816_836del21
1 paper
NM_006843.3
p.H280R
c.839A>G
1 paper
NM_006843.3
p.L274_S279del6
c.820_836del18
1 paper
NM_006843.3
p.S279T
c.836G>C
1 paper
NM_006843.3
p.S279delFs
c.835delT
1 paper
NM_006843.3
p.H280Q
c.840C>G
1 paper
NM_006843.3
p.H280Q
c.840C>A
2 papers
NM_006843.3
p.V281L
c.841G>T
2 papers
NM_006843.3
p.V281L
c.841G>C
1 paper
NM_006843.3
p.V281M
c.841G>A
4 papers
NM_006843.3
p.S279C
c.835A>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."