Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.F101_K102del1

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.F101_K102del1
c.302_304delTCA
Surrounding Variants
1 paper
NM_001378477.3
p.A100_F101insFs
c.300_301insG
1 paper
NM_001378477.3
p.F101S
c.302T>C
1 paper
NM_001378477.3
p.G103insFs
c.308dupG
3 papers
NM_001378477.3
p.R106_R111del6
c.316_332del18
1 paper
NM_001378477.3
p.L107P
c.320T>C
1 paper
NM_001378477.3
p.S94delFs
c.281delC
1 paper
NM_001378477.3
p.R111C
c.331C>T
1 paper
NM_001378477.3
p.L112delFs
c.334delC
2 papers
NM_001378477.3
p.L112P
c.335T>C
2 papers
NM_001378477.3
p.A113_L118del0
c.339_353del15
1 paper
NM_001378477.3
p.L121_F126delFs
c.363_376del14
1 paper
NM_001378477.3
p.H122fs
c.364_365fs
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