Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.L142R

NYX

85 papers

RefSeq Summary

The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also call...

Pfam Domains

LRRNTaa 25–56UCSCLeucine rich repeat N-terminal domain
LRR_1aa 82–104UCSCLeucine Rich Repeat
LRR_8aa 226–285UCSCLeucine rich repeat

Gene Aliases

HGNC Name

nyctalopin

HGNC Previous Symbols

CSNB1; CSNB4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001378477.3
p.L142R
c.425T>G
Surrounding Variants
1 paper
NM_001378477.3
p.L137_C140ins1
c.411_419dup9
1 paper
NM_001378477.3
p.R134P
c.401G>C
1 paper
NM_001378477.3
p.A151V
c.452C>T
1 paper
NM_001378477.3
p.P154S
c.460C>T
1 paper
NM_001378477.3
p.L132_L135ins1
c.396_404dup9
1 paper
NM_001378477.3
p.R124H
c.371G>A
1 paper
NM_001378477.3
p.R124C
c.370C>T
2 papers
NM_001378477.3
p.R124_F126delFs
c.371_377del7
1 paper
NM_001378477.3
p.H122fs
c.364_365fs
1 paper
NM_001378477.3
p.N164H
c.490A>C
1 paper
NM_001378477.3
p.L121_F126delFs
c.363_376del14
2 papers
NM_001378477.3
p.A113_L118del0
c.339_353del15
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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."