Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.L318Q

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
1 paper
NM_181303.2
p.L318Q
c.953T>A
Surrounding Variants
2 papers
NM_181303.2
p.Q313*
c.937C>T
1 paper
NM_181303.2
p.I311I
c.933C>T
1 paper
NM_181303.2
p.S332R
c.994A>C
1 paper
NM_181303.2
p.S332R
c.996C>A
1 paper
NM_181303.2
p.S332R
c.996C>G
1 paper
NM_181303.2
p.L333L
c.997C>T
2 papers
NM_181303.2
p.V346M
c.1036G>A
NM_001166660.2
p.V306M
c.916G>A
1 paper
NM_181303.2
p.A357S
c.1069G>T
1 paper
NM_018977.4
p.V341A
c.1022T>C
NM_181303.2
p.V361A
c.1082T>C
1 paper
NM_181303.2
p.R369C
c.1105C>T
1 paper
NM_181303.2
p.L397P
c.1190T>C
1 paper
NM_181303.2
p.Y399Y
c.1197T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."