Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.R166W

VSX1

210 papers

RefSeq Summary

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate exp...

Pfam Domains

Homeodomainaa 165–221UCSCHomeodomain
Homeodomainaa 165–221UCSCHomeodomain
Homeodomainaa 165–221UCSCHomeodomain

Gene Aliases

HGNC Name

visual system homeobox 1

HGNC Previous Symbol

PPCD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
42 papers
NM_014588.6
p.R166W
c.496C>T
Surrounding Variants
1 paper
NM_014588.6
p.R166G
c.496C>G
21 papers
NM_014588.6
p.G160V
c.479G>T
38 papers
NM_014588.6
p.G160D
c.479G>A
35 papers
NM_014588.6
p.L159M
c.475T>A
1 paper
NM_014588.6
p.T158T
c.474C>G
1 paper
NM_014588.6
p.A155G
c.464C>G
15 papers
NM_014588.6
p.N151S
c.452A>G
2 papers
NM_014588.6
p.S145N
c.434G>A
37 papers
NM_014588.6
p.D144E
c.432C>G
36 papers
NM_014588.6
p.D144E
c.432C>A
2 papers
NM_014588.6
p.D144N
c.430G>A
1 paper
NM_014588.6
p.D142Splc
c.425-11T>A
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