Varaico: Literature-Extracted Genetic Variants

Gene:NPTX1
Variant:p.S139L

NPTX1

68 papers

RefSeq Summary

NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exc...

Pfam Domains

Pentaxinaa 228–422UCSCPentaxin family

Gene Aliases

HGNC Name

neuronal pentraxin 1

HGNC Previous Name

neuronal pentraxin I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002522.4
p.S139L
c.416C>T
Surrounding Variants
1 paper
NM_002522.4
p.R143L
c.428G>T
1 paper
NM_002522.4
p.R143H
c.428G>A
1 paper
NM_002522.4
p.G100D
c.299G>A
1 paper
NM_002522.4
p.R88H
c.263G>A
1 paper
NM_002522.4
p.V65G
c.194T>G
1 paper
NM_002522.4
p.V65insFs
c.193_194insA
1 paper
NM_002522.4
p.V46A
c.137T>C
1 paper
NM_002522.4
p.R29C
c.85C>T
1 paper
NM_002522.4
p.T28M
c.83C>T
1 paper
NM_002522.4
p.G26W
c.76G>T
1 paper
NM_002522.4
p.Q158H
c.474G>T
1 paper
NM_002522.4
p.Q158H
c.474G>C
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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."