Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.V10L

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.V10L
c.28G>C
Surrounding Variants
1 paper
NM_001378477.3
p.L11F
c.31C>T
1 paper
NM_001378477.3
p.A8Splc
c.23-1G>T
1 paper
NM_001378477.3
p.L13insFs
c.39dupG
2 papers
NM_001378477.3
p.A16_C22delFs
c.48_64del17
1 paper
NM_001378477.3
p.V19V
c.57G>A
1 paper
NM_001378477.3
p.R24_A31del0
c.70_93del24
1 paper
NM_001378477.3
p.A29insFs
c.85dupG
6 papers
NM_001378477.3
p.A29_E36del0
c.85_108del24
1 paper
NM_001378477.3
p.A31insFs
c.91dupG
1 paper
NM_001378477.3
p.A31P
c.91G>C
1 paper
NM_001378477.3
p.A31fs
c.91_92fs
1 paper
NM_001378477.3
p.A31A
c.93C>T
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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."