Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.G221R

NLGN3

153 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 40–624UCSCCarboxylesterase family

Gene Aliases

HGNC Name

neuroligin 3

HGNC Alias Symbols

HNL3; KIAA1480; ASPGX1; AUTSX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_181303.2
p.G221R
c.661G>C
Surrounding Variants
1 paper
NM_181303.2
p.G221D
c.662G>A
1 paper
NM_181303.2
p.Y211F
c.632A>T
1 paper
NM_181303.2
p.Y211D
c.631T>G
1 paper
NM_018977.4
p.G188R
c.562G>A
1 paper
NM_018977.4
p.G188R
c.562G>C
1 paper
NM_001166660.2
p.H167H
c.501C>T
2 papers
NM_181303.2
p.R238Q
c.713G>A
1 paper
NM_181303.2
p.R238L
c.713G>T
1 paper
NM_181303.2
p.V202I
c.604G>A
1 paper
NM_181303.2
p.R195Q
c.584G>A
5 papers
NM_181303.2
p.R195W
c.583C>T
1 paper
NM_181303.2
p.G243Splc
c.727+47G>C
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