Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.L179P

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.L179P
c.536T>C
Surrounding Variants
1 paper
NM_001378477.3
p.H181N
c.541C>A
2 papers
NM_001378477.3
p.A177T
c.529G>A
1 paper
NM_001378477.3
p.A177delins
c.529_530delinsAT
2 papers
NM_001378477.3
p.A182_H183insT
c.544_548ins3
5 papers
NM_001378477.3
p.L184P
c.551T>C
2 papers
NM_001378477.3
p.L184R
c.551T>G
1 paper
NM_001378477.3
p.G187R
c.559G>C
1 paper
NM_001378477.3
p.G187delins
c.559_560delinsAA
1 paper
NM_001378477.3
p.I189fs
c.565_566fs
1 paper
NM_001378477.3
p.E190K
c.568G>A
1 paper
NM_001378477.3
p.A193delFs
c.577delG
1 paper
NM_001378477.3
p.N164H
c.490A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."