Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.W56R

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.W56R
c.166T>C
Surrounding Variants
1 paper
NM_020244.3
p.W56R
c.166T>A
1 paper
NM_020244.3
p.L54V
c.160C>G
1 paper
NM_020244.3
p.L59I
c.175C>A
1 paper
NM_020244.3
p.M61I
c.183G>A
1 paper
NM_020244.3
p.L48delFs
c.144delC
1 paper
NM_020244.3
p.L48F
c.142C>T
1 paper
NM_020244.3
p.L48_Y49del1
c.143_145delTCT
2 papers
NM_020244.3
p.I66V
c.196A>G
1 paper
NM_020244.3
p.L46L
c.136C>T
1 paper
NM_020244.3
p.T67I
c.200C>T
1 paper
NM_020244.3
p.P44L
c.131C>T
1 paper
NM_020244.3
p.E43E
c.129G>A
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