Varaico: Literature-Extracted Genetic Variants

Gene:PPBP
Variant:p.K42M

PPBP

96 papers

RefSeq Summary

The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been ...

Pfam Domains

IL8aa 61–120UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

pro-platelet basic protein

HGNC Previous Symbol

THBGB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002704.3
p.K42M
c.125A>T
Surrounding Variants
1 paper
NM_002704.3
p.K42R
c.125A>G
1 paper
NM_002704.3
p.R43K
c.128G>A
1 paper
NM_002704.3
p.R43S
c.129A>T
2 papers
NM_002704.3
p.A46V
c.137C>T
1 paper
NM_002704.3
p.K38T
c.113A>C
1 paper
NM_002704.3
p.K47E
c.139A>G
2 papers
NM_002704.3
p.G48V
c.143G>T
1 paper
NM_002704.3
p.L33P
c.98T>C
1 paper
NM_002704.3
p.L30Q
c.89T>A
1 paper
NM_002704.3
p.L26L
c.76C>T
1 paper
NM_002704.3
p.L24L
c.72G>C
1 paper
NM_002704.3
p.L24V
c.70C>G
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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."