Varaico: Literature-Extracted Genetic Variants

Gene:CDS1
Variant:p.D57N

CDS1

57 papers

RefSeq Summary

Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, a...

Pfam Domains

CTP_transf_1aa 87–417UCSCCytidylyltransferase family

Gene Aliases

HGNC Name

CDP-diacylglycerol synthase 1

HGNC Alias Names

phosphatidate cytidylyltransferase; cytidine diphosphate diacylglycerol synthase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001263.4
p.D57N
c.169G>A
Surrounding Variants
1 paper
NM_001263.4
p.S56F
c.167C>T
1 paper
NM_001263.4
p.P59L
c.176C>T
2 papers
NM_001263.4
p.G48A
c.143G>C
1 paper
NM_001263.4
p.D42V
c.125A>T
1 paper
NM_001263.4
p.S80F
c.239C>T
1 paper
NM_001263.4
p.R82W
c.244A>T
1 paper
NM_001263.4
p.I97M
c.291C>G
4 papers
NM_001263.4
p.L99F
c.297G>C
4 papers
NM_001263.4
p.L99F
c.297G>T
1 paper
NM_001263.4
p.F101_L102delFs
c.302_306del5
1 paper
NM_001263.4
p.L102V
c.304C>G
1 paper
NM_001263.4
p.S108F
c.323C>T
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