Varaico: Literature-Extracted Genetic Variants

Gene:NPTX2
Variant:p.Q275K

NPTX2

65 papers

RefSeq Summary

This gene encodes a member of the family of neuronal petraxins, synaptic proteins that are related to C-reactive protein. This protein is involved in excitatory synapse formation. It also plays a role...

Pfam Domains

Pentaxinaa 223–420UCSCPentaxin family

Gene Aliases

HGNC Name

neuronal pentraxin 2

HGNC Previous Name

neuronal pentraxin II

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002523.3
p.Q275K
c.823C>A
Surrounding Variants
1 paper
NM_002523.3
p.A271V
c.812C>T
1 paper
NM_002523.3
p.G265D
c.794G>A
1 paper
NM_002523.3
p.I289I
c.867C>T
1 paper
NM_002523.3
p.R257W
c.769C>T
1 paper
NM_002523.3
p.D295N
c.883G>A
1 paper
NM_002523.3
p.L254P
c.761T>C
1 paper
NM_002523.3
p.I252T
c.755T>C
1 paper
NM_002523.3
p.T251I
c.752C>T
1 paper
NM_002523.3
p.Y237C
c.710A>G
1 paper
NM_002523.3
p.K296_V297Splc
c.888+56C>A
1 paper
NM_002523.3
p.L229R
c.686T>G
1 paper
NM_002523.3
p.D223N
c.667G>A
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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."