Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.L304R

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.L304R
c.911T>G
Surrounding Variants
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.L300_A301insG
c.898_902ins3
2 papers
NM_001378477.3
p.L309V
c.925C>G
2 papers
NM_001378477.3
p.L299F
c.895C>T
1 paper
NM_001378477.3
p.T310T
c.930C>A
1 paper
NM_001378477.3
p.F317L
c.951C>G
1 paper
NM_001378477.3
p.Q318insFs
c.952_953ins28
1 paper
NM_001378477.3
p.G320_F329delFs
c.959_986del28
1 paper
NM_001378477.3
p.A286delFs
c.856delG
2 papers
NM_001378477.3
p.I285T
c.854T>C
1 paper
NM_001378477.3
p.N283S
c.848A>G
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