Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.A495T

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.A495T
c.1483G>A
Surrounding Variants
1 paper
NM_181303.2
p.S499L
c.1496C>T
1 paper
NM_181303.2
p.C510W
c.1530C>G
1 paper
NM_181303.2
p.W518*
c.1553G>A
1 paper
NM_181303.2
p.W518*
c.1554G>A
21 papers
NM_181303.2
p.R471C
c.1411C>T
NM_018977.4
p.R451C
c.1351C>T
1 paper
NM_181303.2
p.R471delFs
c.1412delG
1 paper
NM_181303.2
p.R464C
c.1390C>T
1 paper
NM_181303.2
p.A462T
c.1384G>A
4 papers
NM_181303.2
p.P534S
c.1600C>T
NM_018977.4
p.P514S
c.1540C>T
5 papers
NM_181303.2
p.R451*
c.1351C>T
1 paper
NM_181303.2
p.T449fs
c.1345_1346fs
1 paper
NM_181303.2
p.L541F
c.1621C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."