Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A18V

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.A18V
c.53C>T
Surrounding Variants
2 papers
NM_006843.3
p.A18G
c.53C>G
1 paper
NM_006843.3
p.S16_A18insFs
c.46_52dup7
6 papers
NM_006843.3
p.A18D
c.53C>A
2 papers
NM_006843.3
p.A18S
c.52G>T
6 papers
NM_006843.3
p.A18T
c.52G>A
5 papers
NM_006843.3
p.A18A
c.54C>A
3 papers
NM_006843.3
p.M17I
c.51G>C
6 papers
NM_006843.3
p.M17I
c.51G>A
1 paper
NM_006843.3
p.M17delFs
c.50delA
1 paper
NM_006843.3
p.L19fs
c.55_56fs
1 paper
NM_006843.3
p.L19_S20insC
c.55_59ins3
2 papers
NM_006843.3
p.L19M
c.55C>A
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."