Varaico: Literature-Extracted Genetic Variants

Gene:NLGN1
Variant:p.P545L

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
1 paper
NM_001365925.2
p.P545L
c.1634C>T
Surrounding Variants
1 paper
NM_001365925.2
p.P545P
c.1635T>G
1 paper
NM_001365925.2
p.N547fs
c.1639_1640fs
1 paper
NM_001365925.2
p.E542K
c.1624G>A
1 paper
NM_001365925.2
p.S549A
c.1645T>G
1 paper
NM_001365925.2
p.S549F
c.1646C>T
1 paper
NM_001365925.2
p.V529V
c.1587T>A
1 paper
NM_001365925.2
p.H510Y
c.1528C>T
1 paper
NM_001365925.2
p.P502insFs
c.1504_1505insC
1 paper
NM_001365925.2
p.T461_D462del2
c.1381_1385del6
1 paper
NM_001365925.2
p.R453*
c.1357A>T
1 paper
NM_001365925.2
p.P446T
c.1336C>A
1 paper
NM_001365925.2
p.D421G
c.1262A>G
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