Varaico: Literature-Extracted Genetic Variants

Gene:NPTXR

NPTXR

31 papers

RefSeq Summary

This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom tox...

Pfam Domains

Pentaxinaa 292–488UCSCPentaxin family

Gene Aliases

HGNC Name

neuronal pentraxin receptor

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
3 papers
NM_014293.4
p.R326W
c.976C>T
2 papers
NM_014293.4
p.R34Q
c.101G>A
1 paper
NM_014293.4
p.M1M
c.1C>A
1 paper
NM_014293.4
p.A51T
c.151G>A
1 paper
NM_014293.4
p.P53fs
c.157_158fs
1 paper
NM_014293.4
p.P53delFs
c.158delG
1 paper
NM_014293.4
p.G64D
c.191G>A
1 paper
NM_014293.4
p.R93L
c.278G>T
1 paper
NM_014293.4
p.A130A
c.390C>A
1 paper
NM_014293.4
p.E131*
c.391G>T
1 paper
NM_014293.4
p.L133P
c.398T>C
1 paper
NM_014293.4
p.C161C
c.483C>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."