Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.P126_L127delFs

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.P126_L127delFs
c.378_379delTT
Surrounding Variants
1 paper
NM_020244.3
p.L127delFs
c.381delA
1 paper
NM_020244.3
p.C124S
c.371G>C
1 paper
NM_020244.3
p.C124S
c.370T>A
1 paper
NM_020244.3
p.S123S
c.369T>A
1 paper
NM_020244.3
p.G115_K116delFs
c.344_347del4
1 paper
NM_020244.3
p.D114N
c.340G>A
1 paper
NM_020244.3
p.A112delFs
c.335_336delCT
1 paper
NM_020244.3
p.D111Y
c.331G>T
1 paper
NM_020244.3
p.L110L
c.328C>T
1 paper
NM_020244.3
p.M143_V145del3
c.427_434del9
1 paper
NM_020244.3
p.M143V
c.427A>G
1 paper
NM_020244.3
p.S148S
c.444A>G
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