Varaico: Literature-Extracted Genetic Variants

BPIFB2

36 papers

RefSeq Summary

This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LB...

Pfam Domains

LBP_BPI_CETPaa 33–186UCSCLBP / BPI / CETP family, N-terminal domain

LBP_BPI_CETP_Caa 230–456UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

BPI fold containing family B member 2

HGNC Previous Symbols

C20orf184; BPIL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_025227.3

p.H55delFs

c.163delC

Surrounding Variants

1 paper

NM_025227.3

p.G61R

c.181G>A

1 paper

NM_025227.3

p.G61R

c.181G>C

1 paper

NM_025227.3

p.A63T

c.187G>A

1 paper

NM_025227.3

p.Q65K

c.193C>A

1 paper

NM_025227.3

p.H75L

c.224A>T

2 papers

NM_025227.3

p.R78C

c.232C>T

1 paper

NM_025227.3

p.L91M

c.271C>A

1 paper

NM_025227.3

p.A95V

c.284C>T

1 paper

NM_025227.3

p.F99L

c.295T>C

1 paper

NM_025227.3

p.F99L

c.297C>A

1 paper

NM_025227.3

p.F99L

c.297C>G

2 papers

NM_025227.3

p.K31M

c.92A>T