Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.E193ins1

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
Selected Variant
1 paper
NM_020244.3
p.E193ins1
c.578_579insTCA
Surrounding Variants
1 paper
NM_020244.3
p.T192I
c.575C>T
1 paper
NM_020244.3
p.A197T
c.589G>A
1 paper
NM_020244.3
p.V201_F202insFs
c.603_604insG
2 papers
NM_020244.3
p.A206delFs
c.616delG
1 paper
NM_020244.3
p.G209R
c.625G>A
1 paper
NM_020244.3
p.M212insFs
c.634dupA
1 paper
NM_020244.3
p.V180A
c.539T>C
1 paper
NM_020244.3
p.Y179C
c.536A>G
3 papers
NM_020244.3
p.A174T
c.520G>A
1 paper
NM_020244.3
p.A174S
c.520G>T
7 papers
NM_020244.3
p.F162S
c.485T>C
1 paper
NM_020244.3
p.F162V
c.484T>G
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