Varaico: Literature-Extracted Genetic Variants

Gene:PCYT1A

PCYT1A

86 papers

RefSeq Summary

This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia wit...

Pfam Domains

CTP_transf_likeaa 80–208UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

phosphate cytidylyltransferase 1A, choline

HGNC Previous Symbol

PCYT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
11 papers
NM_001312673.2
p.A99V
c.296C>T
10 papers
NM_001312673.2
p.F191L
c.571T>C
9 papers
NM_001312673.2
p.P150A
c.448C>G
8 papers
NM_001312673.2
p.E129K
c.385G>A
8 papers
NM_001312673.2
p.F191L
c.573T>G
8 papers
NM_001312673.2
p.F191L
c.573T>A
7 papers
NM_001312673.2
p.R223S
c.669G>T
7 papers
NM_001312673.2
p.R223S
c.669G>C
7 papers
NM_001312673.2
p.E280del1
c.838_839delCTC
7 papers
NM_001312673.2
p.R283*
c.847C>T
6 papers
NM_001312673.2
p.A93T
c.277G>A
5 papers
NM_001312673.2
p.A99T
c.295G>A
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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."