Varaico: Literature-Extracted Genetic Variants

PLTP

92 papers

RefSeq Summary

The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density l...

Pfam Domains

LBP_BPI_CETPaa 30–202UCSCLBP / BPI / CETP family, N-terminal domain

LBP_BPI_CETP_Caa 228–464UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

phospholipid transfer protein

HGNC Alias Symbol

BPIFE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_006227.4

p.S119A

c.355T>G

Surrounding Variants

5 papers

NM_006227.4

p.S124Y

c.371C>A

1 paper

NM_006227.4

p.R126C

c.376C>T

1 paper

NM_006227.4

p.R126P

c.377G>C

1 paper

NM_006227.4

p.S142F

c.425C>T

1 paper

NM_006227.4

p.C146S

c.436T>A

1 paper

NM_006227.4

p.C146S

c.437G>C

1 paper

NM_006227.4

p.S149F

c.446C>T

1 paper

NM_006227.4

p.H154R

c.461A>G

1 paper

NM_006227.4

p.F157V

c.469T>G

2 papers

NM_006227.4

p.F110Splc

c.329+86T>C

1 paper

NM_006227.4

p.W108G

c.322T>G

1 paper

NM_006227.4

p.W108R

c.322T>C