Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.S239insFs

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
2 papers
NM_020244.3
p.S239insFs
c.715dupT
Surrounding Variants
1 paper
NM_020244.3
p.S239A
c.715T>G
1 paper
NM_020244.3
p.S239fs
c.715_716fs
1 paper
NM_020244.3
p.S241T
c.721T>A
1 paper
NM_020244.3
p.G234R
c.700G>C
1 paper
NM_020244.3
p.H245Y
c.733C>T
1 paper
NM_020244.3
p.V229D
c.686T>A
1 paper
NM_020244.3
p.P228L
c.683C>T
1 paper
NM_020244.3
p.L248F
c.742C>T
1 paper
NM_020244.3
p.L227insFs
c.680dupT
1 paper
NM_020244.3
p.L248L
c.744C>G
1 paper
NM_020244.3
p.I226F
c.676A>T
1 paper
NM_020244.3
p.G250D
c.749G>A
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