Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.S229insFs

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
1 paper
NM_014588.6
p.S229insFs
c.685_686insG
Surrounding Variants
3 papers
NM_014588.6
p.W226L
c.677G>T
1 paper
NM_014588.6
p.K224insFs
c.670dupA
1 paper
NM_014588.6
p.A233V
c.698C>T
1 paper
NM_014588.6
p.E234K
c.700G>A
1 paper
NM_014588.6
p.S230_E234delins
c.690_702delinsCACCTGAACCCCC
1 paper
NM_014588.6
p.K221_R222insFs
c.663_664insTT
1 paper
NM_014588.6
p.G236delFs
c.707delC
1 paper
NM_014588.6
p.L237P
c.710T>C
1 paper
NM_014588.6
p.W219*
c.657G>A
1 paper
NM_014588.6
p.W219*
c.656G>A
6 papers
NM_014588.6
p.G239R
c.715G>C
6 papers
NM_014588.6
p.G239R
c.715G>A
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