Varaico: Literature-Extracted Genetic Variants

Gene:NYX
Variant:p.H217_A218insA

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.H217_A218insA
c.649_653ins3
Surrounding Variants
1 paper
NM_001378477.3
p.V213D
c.638T>A
2 papers
NM_001378477.3
p.F221S
c.662T>C
1 paper
NM_001378477.3
p.F221C
c.662T>G
1 paper
NM_001378477.3
p.V226V
c.678C>T
1 paper
NM_001378477.3
p.S207_A210ins1
c.620_628dup9
2 papers
NM_001378477.3
p.S207_Q209ins1
c.619_627dup9
1 paper
NM_001378477.3
p.R204L
c.611G>T
1 paper
NM_001378477.3
p.L203L
c.607C>T
1 paper
NM_001378477.3
p.L232P
c.695T>C
1 paper
NM_001378477.3
p.L200V
c.598C>G
1 paper
NM_001378477.3
p.Q198delFs
c.594delG
1 paper
NM_001378477.3
p.L237L
c.709C>T
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