Varaico: Literature-Extracted Genetic Variants

Gene:NLGN2
Variant:p.V510M

NLGN2

117 papers

RefSeq Summary

This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and rem...

Pfam Domains

COesteraseaa 40–601UCSCCarboxylesterase family

Gene Aliases

HGNC Name

neuroligin 2

HGNC Alias Symbol

KIAA1366

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020795.4
p.V510M
c.1528G>A
Surrounding Variants
1 paper
NM_020795.4
p.Y506C
c.1517A>G
1 paper
NM_020795.4
p.A499A
c.1497G>A
1 paper
NM_020795.4
p.V528I
c.1582G>A
1 paper
NM_020795.4
p.H485D
c.1453C>G
1 paper
NM_020795.4
p.G545Splc
c.1634+4A>T
2 papers
NM_020795.4
p.R448H
c.1343G>A
2 papers
NM_020795.4
p.R448C
c.1342C>T
1 paper
NM_020795.4
p.R447C
c.1339C>T
1 paper
NM_020795.4
p.G545Splc
c.1634+102C>T
1 paper
NM_020795.4
p.D440N
c.1318G>A
1 paper
NM_020795.4
p.A439S
c.1315G>T
1 paper
NM_020795.4
p.R428W
c.1282C>T
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