Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.G320_F329delFs

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.G320_F329delFs
c.959_986del28
Surrounding Variants
1 paper
NM_001378477.3
p.Q318insFs
c.952_953ins28
1 paper
NM_001378477.3
p.F317L
c.951C>G
1 paper
NM_001378477.3
p.T310T
c.930C>A
2 papers
NM_001378477.3
p.L309V
c.925C>G
1 paper
NM_001378477.3
p.W333delFs
c.997delT
1 paper
NM_001378477.3
p.W333_C335del0
c.998_1003del6
1 paper
NM_001378477.3
p.L304R
c.911T>G
1 paper
NM_001378477.3
p.D336A
c.1007A>C
2 papers
NM_001378477.3
p.H303delFs
c.908delA
1 paper
NM_001378477.3
p.L302_L304del3
c.904_911del9
1 paper
NM_001378477.3
p.L339_T353del15
c.1015_1058del45
1 paper
NM_001378477.3
p.E340_D354del15
c.1018_1061del45
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