Varaico: Literature-Extracted Genetic Variants

Gene:NPTX2
Variant:p.R384H

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
3 papers
NM_002523.3
p.R384H
c.1151G>A
Surrounding Variants
1 paper
NM_002523.3
p.R384R
c.1152C>T
1 paper
NM_002523.3
p.R381C
c.1141C>T
1 paper
NM_002523.3
p.S374G
c.1120A>G
1 paper
NM_002523.3
p.P404Q
c.1211C>A
1 paper
NM_002523.3
p.P404L
c.1211C>T
1 paper
NM_002523.3
p.N408Y
c.1222A>T
1 paper
NM_002523.3
p.V359V
c.1077G>T
1 paper
NM_002523.3
p.V359M
c.1075G>A
1 paper
NM_002523.3
p.V410L
c.1228G>C
1 paper
NM_002523.3
p.Q356_D357Splc
c.1069-1G>T
1 paper
NM_002523.3
p.V421M
c.1261G>A
1 paper
NM_002523.3
p.Q356_D357Splc
c.1068+69T>C
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