Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.K378R

NLGN4X

212 papers

RefSeq Summary

This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice sit...

Pfam Domains

COesteraseaa 44–590UCSCCarboxylesterase family

Gene Aliases

HGNC Name

neuroligin 4 X-linked

HGNC Previous Symbol

NLGN4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_181332.3
p.K378R
c.1133A>G
Surrounding Variants
1 paper
NM_181332.3
p.G370D
c.1109G>A
1 paper
NM_181332.3
p.E361D
c.1083G>T
1 paper
NM_181332.3
p.E361D
c.1083G>C
18 papers
NM_181332.3
p.D396insFs
c.1186_1187insT
2 papers
NM_181332.3
p.D396fs
c.1186_1187fs
1 paper
NM_181332.3
p.Q359*
c.1075C>T
1 paper
NM_181332.3
p.I355T
c.1064T>C
12 papers
NM_181332.3
p.V403M
c.1207G>A
1 paper
NM_181332.3
p.P353L
c.1058C>T
1 paper
NM_181332.3
p.V348I
c.1042G>A
1 paper
NM_181332.3
p.G346D
c.1037G>A
1 paper
NM_181332.3
p.R417fs
c.1249_1250fs
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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."