Varaico: Literature-Extracted Genetic Variants

Gene:PPBP
Variant:p.M64L

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.M64L
c.190A>T
Surrounding Variants
1 paper
NM_002704.3
p.I66I
c.198A>T
2 papers
NM_002704.3
p.K67E
c.199A>G
1 paper
NM_002704.3
p.K67R
c.200A>G
1 paper
NM_002704.3
p.Y58*
c.174T>A
1 paper
NM_002704.3
p.S70A
c.208T>G
1 paper
NM_002704.3
p.L57L
c.171G>A
1 paper
NM_002704.3
p.D54N
c.160G>A
1 paper
NM_002704.3
p.L53Q
c.158T>A
1 paper
NM_002704.3
p.Q91R
c.272A>G
1 paper
NM_002704.3
p.I95Splc
c.284+5G>A
1 paper
NM_002704.3
p.D100A
c.299A>C
1 paper
NM_002704.3
p.L106V
c.316C>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."