Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.H8Q

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.H8Q
c.24C>A
Surrounding Variants
1 paper
NM_006843.3
p.H8insFs
c.23dupA
1 paper
NM_006843.3
p.G4_H8insFs
c.12_22dup11
3 papers
NM_006843.3
p.V9L
c.25G>T
3 papers
NM_006843.3
p.V9L
c.25G>C
7 papers
NM_006843.3
p.V9M
c.25G>A
1 paper
NM_006843.3
p.H8L
c.23A>T
3 papers
NM_006843.3
p.H8R
c.23A>G
4 papers
NM_006843.3
p.H8P
c.23A>C
1 paper
NM_006843.3
p.H8insFs
c.22_23insC
1 paper
NM_006843.3
p.P6_L7delFs
c.18_21del4
1 paper
NM_006843.3
p.M1_H8delFs
c.3_22del20
4 papers
NM_006843.3
p.V9A
c.26T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."