Varaico: Literature-Extracted Genetic Variants

Gene:NPTX1
Variant:p.Q370R

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.Q370R
c.1109A>G
Surrounding Variants
3 papers
NM_002522.4
p.G389R
c.1165G>C
3 papers
NM_002522.4
p.G389R
c.1165G>A
1 paper
NM_002522.4
p.G389E
c.1166G>A
1 paper
NM_002522.4
p.E390G
c.1169A>G
1 paper
NM_002522.4
p.C397S
c.1189T>A
1 paper
NM_002522.4
p.C397S
c.1190G>C
1 paper
NM_002522.4
p.Y417Y
c.1251C>T
1 paper
NM_002522.4
p.T421T
c.1263C>A
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.P343S
c.1027C>T
1 paper
NM_002522.4
p.A342V
c.1025C>T
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