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.F273F

c.819T>C

Surrounding Variants

1 paper

NM_001725.3

p.T292S

c.874A>T

1 paper

NM_001725.3

p.T321A

c.961A>G

2 papers

NM_001725.3

p.P351S

c.1051C>T

1 paper

NM_001725.3

p.L384R

c.1151T>G

1 paper

NM_001725.3

p.S211delFs

c.631delT