Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.R50P

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
2 papers
NM_001378477.3
p.R50P
c.149G>C
Surrounding Variants
1 paper
NM_001378477.3
p.R50W
c.148C>T
3 papers
NM_001378477.3
p.L48L
c.144C>G
1 paper
NM_001378477.3
p.A46V
c.137C>T
1 paper
NM_001378477.3
p.D44insFs
c.131dupA
1 paper
NM_001378477.3
p.P56P
c.168G>T
1 paper
NM_001378477.3
p.E58Q
c.172G>C
1 paper
NM_001378477.3
p.A59E
c.176C>A
2 papers
NM_001378477.3
p.V41delFs
c.121delG
2 papers
NM_001378477.3
p.S61insFs
c.182_183insT
1 paper
NM_001378477.3
p.R37C
c.109C>T
3 papers
NM_001378477.3
p.E36_R37del0
c.106_111del6
1 paper
NM_001378477.3
p.C32delFs
c.96delC
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