Varaico: Literature-Extracted Genetic Variants

Gene:BPIFB4

BPIFB4

76 papers

Pfam Domains

LBP_BPI_CETPaa 198–342UCSCLBP / BPI / CETP family, N-terminal domain
LBP_BPI_CETP_Caa 394–614UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

BPI fold containing family B member 4

HGNC Previous Symbol

C20orf186

Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
6 papers
NM_182519.3
p.I229V
c.685A>G
4 papers
NM_182519.3
p.N320T
c.959A>C
4 papers
NM_182519.3
p.F527L
c.1579T>C
4 papers
NM_182519.3
p.F527L
c.1581C>A
4 papers
NM_182519.3
p.F527L
c.1581C>G
4 papers
NM_182519.3
p.T533I
c.1598C>T
3 papers
NM_182519.3
p.P73delFs
c.218delC
3 papers
NM_182519.3
p.I268V
c.802A>G
2 papers
NM_182519.3
p.R124C
c.370C>T
2 papers
NM_182519.3
p.A165V
c.494C>T
2 papers
NM_182519.3
p.L191R
c.572T>G
2 papers
NM_182519.3
p.R289Q
c.866G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."