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

2 papers

NM_004139.5

p.F279S

c.836T>C

Surrounding Variants

1 paper

NM_004139.5

p.A280V

c.839C>T

7 papers

NM_004139.5

p.D283G

c.848A>G

2 papers

NM_004139.5

p.Y284H

c.850T>C

1 paper

NM_004139.5

p.H273H

c.819C>T

1 paper

NM_004139.5

p.L269I

c.805C>A

1 paper

NM_004139.5

p.M267V

c.799A>G

1 paper

NM_004139.5

p.E296A

c.887A>C

1 paper

NM_004139.5

p.R257H

c.770G>A

1 paper

NM_004139.5

p.M307V

c.919A>G

1 paper

NM_004139.5

p.E250V

c.749A>T

1 paper

NM_004139.5

p.E250K

c.748G>A

1 paper

NM_004139.5

p.E250Q

c.748G>C