Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.L17P

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
24 papers
NM_014588.6
p.L17P
c.50T>C
Surrounding Variants
6 papers
NM_014588.6
p.L17V
c.49C>G
1 paper
NM_014588.6
p.P19S
c.55C>T
1 paper
NM_014588.6
p.P19insFs
c.56_57insT
1 paper
NM_014588.6
p.R15W
c.43A>T
1 paper
NM_014588.6
p.G21C
c.61G>T
1 paper
NM_014588.6
p.G21A
c.62G>C
1 paper
NM_014588.6
p.P23L
c.68C>T
1 paper
NM_014588.6
p.S22delFs
c.65delG
1 paper
NM_014588.6
p.R24W
c.70A>T
1 paper
NM_014588.6
p.R24S
c.72G>T
1 paper
NM_014588.6
p.G10W
c.28G>T
1 paper
NM_014588.6
p.R24S
c.72G>C
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