Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.D262delFs

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.D262delFs
c.785delA
Surrounding Variants
1 paper
NM_001378477.3
p.L277M
c.829C>A
1 paper
NM_001378477.3
p.A244_L248del0
c.732_743del12
1 paper
NM_001378477.3
p.R282G
c.844C>G
1 paper
NM_001378477.3
p.N283S
c.848A>G
2 papers
NM_001378477.3
p.I285T
c.854T>C
1 paper
NM_001378477.3
p.A286delFs
c.856delG
1 paper
NM_001378477.3
p.L237L
c.709C>T
1 paper
NM_001378477.3
p.L232P
c.695T>C
1 paper
NM_001378477.3
p.V226V
c.678C>T
2 papers
NM_001378477.3
p.L299F
c.895C>T
1 paper
NM_001378477.3
p.L300_A301insG
c.898_902ins3
1 paper
NM_001378477.3
p.L302_L304del3
c.904_911del9
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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."