Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1

CHPT1

102 papers

Pfam Domains

CDP-OH_P_transfaa 60–220UCSCCDP-alcohol phosphatidyltransferase

Gene Aliases

HGNC Name

choline phosphotransferase 1

HGNC Alias Symbol

CPT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
7 papers
NM_020244.3
p.F162S
c.485T>C
3 papers
NM_020244.3
p.A174T
c.520G>A
2 papers
NM_020244.3
p.I66V
c.196A>G
2 papers
NM_020244.3
p.A206delFs
c.616delG
2 papers
NM_020244.3
p.S239insFs
c.715dupT
2 papers
NM_020244.3
p.K292Q
c.874A>C
2 papers
NM_020244.3
p.V313_V314Splc
c.940-2A>G
2 papers
NM_020244.3
p.G333V
c.998G>T
2 papers
NM_020244.3
p.L334P
c.1001T>C
1 paper
NM_020244.3
p.M1insFs
c.2dupT
1 paper
NM_020244.3
p.M1V
c.1A>G
1 paper
NM_020244.3
p.M1delFs
c.2delT
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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."