Varaico: Literature-Extracted Genetic Variants

Gene:PCYT1B
Variant:p.E11D

PCYT1B

48 papers

RefSeq Summary

The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants enc...

Pfam Domains

CTP_transf_likeaa 80–208UCSCCytidylyltransferase-like

Gene Aliases

HGNC Name

phosphate cytidylyltransferase 1B, choline

HGNC Alias Symbols

CCT-beta; CTB; CCTbeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004845.5
p.E11D
c.33A>C
Surrounding Variants
1 paper
NM_004845.5
p.E11D
c.33A>T
2 papers
NM_004845.5
p.E11A
c.32A>C
2 papers
NM_004845.5
p.E11K
c.31G>A
1 paper
NM_004845.5
p.K16E
c.46A>G
1 paper
NM_004845.5
p.P2L
c.5C>T
1 paper
NM_004845.5
p.P2T
c.4C>A
1 paper
NM_004845.5
p.M27T
c.80T>C
1 paper
NM_004845.5
p.E29K
c.85G>A
1 paper
NM_004845.5
p.E31K
c.91G>A
1 paper
NM_004845.5
p.H32R
c.95A>G
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