Varaico: Literature-Extracted Genetic Variants

Gene:BPIFA1
Variant:p.G62E

BPIFA1

27 papers

RefSeq Summary

This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacte...

Pfam Domains

LBP_BPI_CETPaa 58–234UCSCLBP / BPI / CETP family, N-terminal domain

Gene Aliases

HGNC Name

BPI fold containing family A member 1

HGNC Previous Symbol

PLUNC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130852.3
p.G62E
c.185G>A
Surrounding Variants
1 paper
NM_130852.3
p.G63D
c.188G>A
1 paper
NM_130852.3
p.S61A
c.181T>G
1 paper
NM_130852.3
p.G66D
c.197G>A
1 paper
NM_130852.3
p.G58A
c.173G>C
1 paper
NM_130852.3
p.I67T
c.200T>C
1 paper
NM_130852.3
p.A54Splc
c.161-3C>T
1 paper
NM_130852.3
p.G86D
c.257G>A
1 paper
NM_130852.3
p.T96M
c.287C>T
1 paper
NM_130852.3
p.L102V
c.304C>G
2 papers
NM_130852.3
p.G22E
c.65G>A
1 paper
NM_130852.3
p.T17S
c.50C>G
1 paper
NM_130852.3
p.T17S
c.49A>T
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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."