Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K317E

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
2 papers
NM_006843.3
p.K317E
c.949A>G
Surrounding Variants
2 papers
NM_006843.3
p.R314_L316del3
c.940_947del9
2 papers
NM_006843.3
p.K317M
c.950A>T
6 papers
NM_006843.3
p.K317R
c.950A>G
2 papers
NM_006843.3
p.L316P
c.947T>C
2 papers
NM_006843.3
p.K317N
c.951G>T
1 paper
NM_006843.3
p.K317N
c.951G>C
1 paper
NM_006843.3
p.E318Q
c.952G>C
5 papers
NM_006843.3
p.E318K
c.952G>A
1 paper
NM_006843.3
p.L316I
c.946C>A
1 paper
NM_006843.3
p.R314_A315Fs
c.942_945delinsTCCFs
3 papers
NM_006843.3
p.E318A
c.953A>C
1 paper
NM_006843.3
p.A315E
c.944C>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."