Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I96_E97del1

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.I96_E97del1
c.288_290delTCA
Surrounding Variants
1 paper
NM_006843.3
p.E97E
c.291G>A
6 papers
NM_006843.3
p.R98C
c.292C>T
1 paper
NM_006843.3
p.E97_R98insFs
c.291_292insG
2 papers
NM_006843.3
p.E97G
c.290A>G
9 papers
NM_006843.3
p.E97A
c.290A>C
1 paper
NM_006843.3
p.I96insFs
c.287dupT
2 papers
NM_006843.3
p.R98P
c.293G>C
1 paper
NM_006843.3
p.E97Q
c.289G>C
4 papers
NM_006843.3
p.R98H
c.293G>A
3 papers
NM_006843.3
p.E97K
c.289G>A
1 paper
NM_006843.3
p.I96delFs
c.288delA
1 paper
NM_006843.3
p.I96I
c.288T>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."