Varaico: Literature-Extracted Genetic Variants

BPIFB1

40 papers

RefSeq Summary

The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI...

Pfam Domains

LBP_BPI_CETPaa 43–211UCSCLBP / BPI / CETP family, N-terminal domain

LBP_BPI_CETP_Caa 286–471UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

BPI fold containing family B member 1

HGNC Previous Symbol

C20orf114

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_033197.3

p.I84V

c.250A>G

Surrounding Variants

1 paper

NM_033197.3

p.V80I

c.238G>A

1 paper

NM_033197.3

p.E64_L76delFs

c.190_226del37

1 paper

NM_033197.3

p.T50fs

c.148_149fs

1 paper

NM_033197.3

p.T50_L53delFs

c.148_157del10

1 paper

NM_033197.3

p.L97L

c.289C>T

1 paper

NM_033197.3

p.T122Splc

c.366-68C>T

1 paper

NM_033197.3

p.K126ins2

c.377_378ins6

1 paper

NM_033197.3

p.R142C

c.424C>T

1 paper

NM_033197.3

p.M143I

c.429G>A

1 paper

NM_033197.3

p.M143I

c.429G>C

1 paper

NM_033197.3

p.M143I

c.429G>T

1 paper

NM_033197.3

p.P25P

c.75C>G