Varaico: Literature-Extracted Genetic Variants

Gene:BPIFB4
Variant:p.R289Q

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
Selected Variant
2 papers
NM_182519.3
p.R289Q
c.866G>A
Surrounding Variants
1 paper
NM_182519.3
p.P288L
c.863C>T
1 paper
NM_182519.3
p.G286C
c.856G>T
1 paper
NM_182519.3
p.R294*
c.880C>T
1 paper
NM_182519.3
p.D283E
c.849C>A
1 paper
NM_182519.3
p.D283E
c.849C>G
1 paper
NM_182519.3
p.R308*
c.922C>T
1 paper
NM_182519.3
p.R308Q
c.923G>A
3 papers
NM_182519.3
p.I268V
c.802A>G
1 paper
NM_182519.3
p.Y248*
c.744C>A
1 paper
NM_182519.3
p.Y248*
c.744C>G
1 paper
NM_182519.3
p.R240W
c.718C>T
6 papers
NM_182519.3
p.I229V
c.685A>G
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