Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.V446delFs

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.V446delFs
c.1338delG
Surrounding Variants
1 paper
NM_001378477.3
p.L457_P463del0
c.1370_1387del18
1 paper
NM_001378477.3
p.L437delFs
c.1309delC
1 paper
NM_001378477.3
p.C460R
c.1378T>C
1 paper
NM_001378477.3
p.L461R
c.1382T>G
1 paper
NM_001378477.3
p.P463_V465delFs
c.1388_1394del7
1 paper
NM_001378477.3
p.A425delFs
c.1273delG
1 paper
NM_001378477.3
p.S409S
c.1227C>T
2 papers
NM_001378477.3
p.V405A
c.1214T>C
1 paper
NM_001378477.3
p.A402insFs
c.1205_1206insT
1 paper
NM_001378477.3
p.P384R
c.1151C>G
1 paper
NM_001378477.3
p.P384L
c.1151C>T
1 paper
NM_001378477.3
p.G379R
c.1135G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."