Varaico: Literature-Extracted Genetic Variants

LBP

170 papers

RefSeq Summary

The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on th...

Pfam Domains

LBP_BPI_CETPaa 38–212UCSCLBP / BPI / CETP family, N-terminal domain

LBP_BPI_CETP_Caa 241–478UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

lipopolysaccharide binding protein

HGNC Alias Symbol

BPIFD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004139.5

p.L125V

c.373C>G

Surrounding Variants

1 paper

NM_004139.5

p.S128A

c.382T>G

1 paper

NM_004139.5

p.S128F

c.383C>T

1 paper

NM_004139.5

p.V133insFs

c.398_399insG

1 paper

NM_004139.5

p.V140G

c.419T>G

1 paper

NM_004139.5

p.N141I

c.422A>T

1 paper

NM_004139.5

p.E147K

c.439G>A

2 papers

NM_004139.5

p.T155S

c.463A>T

3 papers

NM_004139.5

p.T155S

c.464C>G

1 paper

NM_004139.5

p.V166M

c.496G>A

1 paper

NM_004139.5

p.R196_I197Splc

c.588+1G>T

1 paper

NM_004139.5

p.R119H

c.356G>A

1 paper

NM_004139.5

p.R115delFs

c.344delG