Varaico: Literature-Extracted Genetic Variants

Gene:NLGN1
Variant:p.R94C

NLGN1

134 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 51–626UCSCCarboxylesterase family

Gene Aliases

HGNC Name

neuroligin 1

HGNC Alias Symbols

KIAA1070; NLG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001365925.2
p.R94C
c.280C>T
Surrounding Variants
2 papers
NM_001365925.2
p.R93H
c.278G>A
1 paper
NM_001365925.2
p.R93L
c.278G>T
2 papers
NM_001365925.2
p.T90R
c.269C>G
3 papers
NM_001365925.2
p.T90I
c.269C>T
1 paper
NM_001365925.2
p.T90S
c.268A>T
13 papers
NM_001365925.2
p.P89L
c.266C>T
1 paper
NM_001365925.2
p.P88S
c.262C>T
1 paper
NM_001365925.2
p.A87S
c.259G>T
1 paper
NM_001365925.2
p.S102C
c.305C>G
1 paper
NM_001365925.2
p.L81R
c.242T>G
1 paper
NM_001365925.2
p.Q79L
c.236A>T
1 paper
NM_001365925.2
p.T111A
c.331A>G
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