Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.R617W

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
8 papers
NM_181303.2
p.R617W
c.1849C>T
NM_018977.4
p.R597W
c.1789C>T
Surrounding Variants
1 paper
NM_018977.4
p.D594N
c.1780G>A
1 paper
NM_181303.2
p.Y640*
c.1920T>A
1 paper
NM_181303.2
p.Y640*
c.1920T>G
1 paper
NM_181303.2
p.W593_S594delFs
c.1777_1780del4
3 papers
NM_181303.2
p.T652A
c.1954A>G
NM_018977.4
p.T632A
c.1894A>G
1 paper
NM_001166660.2
p.H617Y
c.1849C>T
2 papers
NM_181303.2
p.T659N
c.1976C>A
1 paper
NM_181303.2
p.R660H
c.1979G>A
1 paper
NM_181303.2
p.R661K
c.1982G>A
1 paper
NM_181303.2
p.R671W
c.2011C>T
1 paper
NM_181303.2
p.I674T
c.2021T>C
1 paper
NM_181303.2
p.N680D
c.2038A>G
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