Varaico: Literature-Extracted Genetic Variants

BPI

38 papers

RefSeq Summary

This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014].

Pfam Domains

LBP_BPI_CETPaa 40–216UCSCLBP / BPI / CETP family, N-terminal domain

LBP_BPI_CETP_Caa 245–482UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

bactericidal permeability increasing protein

HGNC Alias Symbol

BPIFD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001725.3

p.F124C

c.371T>G

Surrounding Variants

2 papers

NM_001725.3

p.L90F

c.268C>T

1 paper

NM_001725.3

p.D84V

c.251A>T

1 paper

NM_001725.3

p.D84fs

c.250_251fs

1 paper

NM_001725.3

p.M83_I85delFs

c.249_253del5

3 papers

NM_001725.3

p.R58S

c.174G>C

1 paper

NM_001725.3

p.R58T

c.173G>C

2 papers

NM_001725.3

p.A44A

c.132C>A

1 paper

NM_001725.3

p.S148fs

c.442_443fs

1 paper

NM_001725.3

p.H170_V171insFs

c.510_511insA

1 paper

NM_001725.3

p.L184R

c.551T>G

1 paper

NM_001725.3

p.E190_S191insFs

c.570_571insA

1 paper

NM_001725.3

p.S191S

c.573T>C