Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.L269P

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.L269P
c.806T>C
Surrounding Variants
1 paper
NM_020244.3
p.D288G
c.863A>G
2 papers
NM_020244.3
p.K292Q
c.874A>C
1 paper
NM_020244.3
p.V304V
c.912C>G
1 paper
NM_020244.3
p.L312S
c.935T>C
1 paper
NM_020244.3
p.V313_V314Splc
c.939+3A>G
2 papers
NM_020244.3
p.V313_V314Splc
c.940-2A>G
1 paper
NM_020244.3
p.H316D
c.946C>G
1 paper
NM_020244.3
p.D326D
c.978C>T
1 paper
NM_020244.3
p.T327I
c.980C>T
1 paper
NM_020244.3
p.V328A
c.983T>C
1 paper
NM_020244.3
p.L330insFs
c.988dupT
2 papers
NM_020244.3
p.G333V
c.998G>T
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