Varaico: Literature-Extracted Genetic Variants

CETP

539 papers

RefSeq Summary

The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cau...

Pfam Domains

LBP_BPI_CETPaa 36–211UCSCLBP / BPI / CETP family, N-terminal domain

LBP_BPI_CETP_Caa 243–480UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

cholesteryl ester transfer protein

HGNC Alias Symbol

BPIFF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000078.3

p.P463P

c.1389T>G

Surrounding Variants

1 paper

NM_000078.3

p.E464A

c.1391A>C

1 paper

NM_000078.3

p.I461M

c.1383C>G

29 papers

NM_000078.3

p.D459G

c.1376A>G

1 paper

NM_000078.3

p.R468*

c.1402C>T

13 papers

NM_000078.3

p.R468Q

c.1403G>A

1 paper

NM_000078.3

p.D459N

c.1375G>A

1 paper

NM_000078.3

p.D469E

c.1407T>A

1 paper

NM_000078.3

p.D469E

c.1407T>G

1 paper

NM_000078.3

p.L457F

c.1369C>T

2 papers

NM_000078.3

p.D469_G470Splc

c.1407+2T>C

1 paper

NM_000078.3

p.S456R

c.1368C>A

1 paper

NM_000078.3

p.S456R

c.1368C>G