Varaico: Literature-Extracted Genetic Variants

Gene:NPTX1
Variant:p.A263T

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
2 papers
NM_002522.4
p.A263T
c.787G>A
Surrounding Variants
1 paper
NM_002522.4
p.K260R
c.779A>G
1 paper
NM_002522.4
p.K242E
c.724A>G
1 paper
NM_002522.4
p.L234P
c.701T>C
1 paper
NM_002522.4
p.K299Q
c.895A>C
1 paper
NM_002522.4
p.K227Q
c.679A>C
1 paper
NM_002522.4
p.D309V
c.926A>T
2 papers
NM_002522.4
p.E327G
c.980A>G
1 paper
NM_002522.4
p.A342V
c.1025C>T
1 paper
NM_002522.4
p.P343S
c.1027C>T
1 paper
NM_002522.4
p.V354L
c.1060G>T
1 paper
NM_002522.4
p.V354L
c.1060G>C
1 paper
NM_002522.4
p.N193K
c.579C>G
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