Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.W352R

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.W352R
c.1054T>C
Surrounding Variants
1 paper
NM_020244.3
p.Y348F
c.1043A>T
1 paper
NM_020244.3
p.E347K
c.1039G>A
1 paper
NM_020244.3
p.F344_E347del4
c.1030_1040del12
2 papers
NM_020244.3
p.L334P
c.1001T>C
1 paper
NM_020244.3
p.L335_F336del2
c.1003_1007del6
2 papers
NM_020244.3
p.G333V
c.998G>T
1 paper
NM_020244.3
p.L330insFs
c.988dupT
1 paper
NM_020244.3
p.V328A
c.983T>C
1 paper
NM_020244.3
p.T327I
c.980C>T
1 paper
NM_020244.3
p.D326D
c.978C>T
1 paper
NM_020244.3
p.H316D
c.946C>G
2 papers
NM_020244.3
p.V313_V314Splc
c.940-2A>G
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