Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.E115E

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.E115E
c.345G>A
Surrounding Variants
2 papers
NM_014588.6
p.P116P
c.348C>G
5 papers
NM_014588.6
p.P116P
c.348C>A
1 paper
NM_014588.6
p.P114A
c.340C>G
2 papers
NM_014588.6
p.G113G
c.339C>T
1 paper
NM_014588.6
p.G113S
c.337G>A
2 papers
NM_014588.6
p.A121G
c.362C>G
1 paper
NM_014588.6
p.F108L
c.324C>G
1 paper
NM_014588.6
p.F108L
c.324C>A
1 paper
NM_014588.6
p.F108L
c.322T>C
1 paper
NM_014588.6
p.F108I
c.322T>A
1 paper
NM_014588.6
p.R124C
c.370C>T
1 paper
NM_014588.6
p.R124S
c.370C>A
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