Varaico: Literature-Extracted Genetic Variants

Gene:NLGN3
Variant:p.R737H

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.R737H
c.2210G>A
Surrounding Variants
1 paper
NM_181303.2
p.L741P
c.2222T>C
1 paper
NM_181303.2
p.L741R
c.2222T>G
1 paper
NM_181303.2
p.L729fs
c.2185_2186fs
1 paper
NM_181303.2
p.A728delFs
c.2184delC
1 paper
NM_181303.2
p.N722S
c.2165A>G
1 paper
NM_181303.2
p.L721F
c.2161C>T
1 paper
NM_181303.2
p.C775Y
c.2324G>A
1 paper
NM_181303.2
p.G778fs
c.2332_2333fs
1 paper
NM_181303.2
p.Q691R
c.2072A>G
1 paper
NM_181303.2
p.S686S
c.2058C>G
1 paper
NM_181303.2
p.Y792F
c.2375A>T
1 paper
NM_181303.2
p.N680D
c.2038A>G
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