Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.A31P

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.A31P
c.91G>C
Surrounding Variants
1 paper
NM_001378477.3
p.A31fs
c.91_92fs
1 paper
NM_001378477.3
p.A31insFs
c.91dupG
1 paper
NM_001378477.3
p.A31A
c.93C>T
1 paper
NM_001378477.3
p.C32delFs
c.96delC
1 paper
NM_001378477.3
p.A29insFs
c.85dupG
6 papers
NM_001378477.3
p.A29_E36del0
c.85_108del24
3 papers
NM_001378477.3
p.E36_R37del0
c.106_111del6
1 paper
NM_001378477.3
p.R37C
c.109C>T
2 papers
NM_001378477.3
p.V41delFs
c.121delG
1 paper
NM_001378477.3
p.R24_A31del0
c.70_93del24
1 paper
NM_001378477.3
p.V19V
c.57G>A
1 paper
NM_001378477.3
p.D44insFs
c.131dupA
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