Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M1del1

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.M1del1
c.1_2delCAT
Surrounding Variants
2 papers
NM_006843.3
p.S3P
c.7T>C
5 papers
NM_006843.3
p.S3T
c.7T>A
1 paper
NM_006843.3
p.M2delFs
c.6delC
2 papers
NM_006843.3
p.M2I
c.6G>T
1 paper
NM_006843.3
p.M2fs
c.4_5fs
4 papers
NM_006843.3
p.M2I
c.6G>C
5 papers
NM_006843.3
p.M2I
c.6G>A
3 papers
NM_006843.3
p.S3F
c.8C>T
2 papers
NM_006843.3
p.S3C
c.8C>G
1 paper
NM_006843.3
p.S3Fs
c.7delinsTGGGTAGGGFs
2 papers
NM_006843.3
p.S3Y
c.8C>A
1 paper
NM_006843.3
p.M2_S3Fs
c.5_9delinsCATFs
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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."