Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K21I

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.K21I
c.62A>T
Surrounding Variants
2 papers
NM_006843.3
p.K21R
c.62A>G
3 papers
NM_006843.3
p.K21T
c.62A>C
2 papers
NM_006843.3
p.K21N
c.63A>T
1 paper
NM_006843.3
p.K21*
c.61A>T
8 papers
NM_006843.3
p.K21E
c.61A>G
3 papers
NM_006843.3
p.K21Q
c.61A>C
1 paper
NM_006843.3
p.K21N
c.63A>C
1 paper
NM_006843.3
p.S20delFs
c.59delG
3 papers
NM_006843.3
p.S20S
c.60C>A
1 paper
NM_006843.3
p.M22L
c.64A>T
1 paper
NM_006843.3
p.M22V
c.64A>G
1 paper
NM_006843.3
p.M22_A23insC
c.64_68ins3
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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."