Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.A54T

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.A54T
c.160G>A
Surrounding Variants
1 paper
NM_181303.2
p.A54insFs
c.161dupC
1 paper
NM_181303.2
p.R55G
c.163C>G
2 papers
NM_181303.2
p.R55*
c.163C>T
1 paper
NM_181303.2
p.P57L
c.170C>T
1 paper
NM_181303.2
p.L58L
c.172C>T
1 paper
NM_181303.2
p.S60G
c.178A>G
1 paper
NM_181303.2
p.H47N
c.139C>A
1 paper
NM_181303.2
p.T46A
c.136A>G
1 paper
NM_181303.2
p.I62V
c.184A>G
1 paper
NM_181303.2
p.Q68*
c.202C>T
1 paper
NM_181303.2
p.V72insFs
c.214dupG
1 paper
NM_181303.2
p.V72fs
c.214_215fs
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