Varaico: Literature-Extracted Genetic Variants

Gene:BPIFB6
Variant:p.V139fs

BPIFB6

46 papers

Pfam Domains

LBP_BPI_CETPaa 22–184UCSCLBP / BPI / CETP family, N-terminal domain
LBP_BPI_CETP_Caa 262–452UCSCLBP / BPI / CETP family, C-terminal domain

Gene Aliases

HGNC Name

BPI fold containing family B member 6

HGNC Previous Symbol

BPIL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174897.2
p.V139fs
c.415_416fs
Surrounding Variants
1 paper
NM_174897.2
p.C137S
c.410G>C
1 paper
NM_174897.2
p.C137S
c.409T>A
1 paper
NM_174897.2
p.K133fs
c.397_398fs
1 paper
NM_174897.2
p.N151Splc
c.452+3G>A
1 paper
NM_174897.2
p.N151Splc
c.452+16G>A
1 paper
NM_174897.2
p.E108K
c.322G>A
1 paper
NM_174897.2
p.N151Splc
c.453-1G>A
4 papers
NM_174897.2
p.V97I
c.289G>A
1 paper
NM_174897.2
p.Q89L
c.266A>T
1 paper
NM_174897.2
p.N66Splc
c.198-1G>A
1 paper
NM_174897.2
p.C174S
c.520T>A
1 paper
NM_174897.2
p.C174S
c.521G>C
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