Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R51_W52Splc

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.R51_W52Splc
c.153+2T>G
Surrounding Variants
1 paper
NM_006843.3
p.R51_W52Splc
c.153+1G>C
3 papers
NM_006843.3
p.R51_W52Splc
c.153+1G>A
1 paper
NM_006843.3
p.R51S
c.153G>C
2 papers
NM_006843.3
p.R51R
c.153G>A
1 paper
NM_006843.3
p.K50_R51insFs
c.148_151dup4
1 paper
NM_006843.3
p.R51T
c.152G>C
9 papers
NM_006843.3
p.R51K
c.152G>A
2 papers
NM_006843.3
p.R51_W52Splc
c.153+5G>A
2 papers
NM_006843.3
p.R51W
c.151A>T
1 paper
NM_006843.3
p.R51G
c.151A>G
2 papers
NM_006843.3
p.K50N
c.150G>T
2 papers
NM_006843.3
p.K50insFs
c.149dupA
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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."