Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K21N

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.K21N
c.63A>C
Surrounding Variants
2 papers
NM_006843.3
p.K21N
c.63A>T
3 papers
NM_006843.3
p.K21I
c.62A>T
1 paper
NM_006843.3
p.M22L
c.64A>T
2 papers
NM_006843.3
p.K21R
c.62A>G
1 paper
NM_006843.3
p.M22V
c.64A>G
3 papers
NM_006843.3
p.K21T
c.62A>C
1 paper
NM_006843.3
p.M22_A23insC
c.64_68ins3
1 paper
NM_006843.3
p.A18_K21del4
c.52_62del12
1 paper
NM_006843.3
p.M22insFs
c.65_66ins4
2 papers
NM_006843.3
p.K21insFs
c.62_63insA
2 papers
NM_006843.3
p.M22T
c.65T>C
4 papers
NM_006843.3
p.M22K
c.65T>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."