Varaico: Literature-Extracted Genetic Variants

Gene:CDS2
Variant:p.R429W

CDS2

32 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 70–400UCSCCytidylyltransferase family

Gene Aliases

HGNC Name

CDP-diacylglycerol synthase 2

HGNC Alias Names

phosphatidate cytidylyltransferase 2; cytidine diphosphate diacylglycerol synthase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003818.4
p.R429W
c.1285C>T
Surrounding Variants
1 paper
NM_003818.4
p.N426S
c.1277A>G
1 paper
NM_003818.4
p.S407N
c.1220G>A
1 paper
NM_003818.4
p.P406A
c.1216C>G
2 papers
NM_003818.4
p.F356F
c.1068C>T
1 paper
NM_003818.4
p.H338Q
c.1014C>A
1 paper
NM_003818.4
p.H338Q
c.1014C>G
1 paper
NM_003818.4
p.H216Y
c.646C>T
1 paper
NM_003818.4
p.T209I
c.626C>T
1 paper
NM_003818.4
p.V202_Q210delFs
c.606_628del23
1 paper
NM_003818.4
p.V202fs
c.604_605fs
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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."