Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.P46A

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.P46A
c.136C>G
Surrounding Variants
2 papers
NM_014588.6
p.P46S
c.136C>T
2 papers
NM_014588.6
p.P46P
c.138C>G
1 paper
NM_014588.6
p.P44delFs
c.131delG
1 paper
NM_014588.6
p.G50R
c.148G>A
1 paper
NM_014588.6
p.G50E
c.149G>A
1 paper
NM_014588.6
p.C55G
c.163T>G
1 paper
NM_014588.6
p.C55*
c.165C>A
1 paper
NM_014588.6
p.E56K
c.166G>A
1 paper
NM_014588.6
p.E56D
c.168G>T
1 paper
NM_014588.6
p.E56D
c.168G>C
2 papers
NM_014588.6
p.P58S
c.172C>T
4 papers
NM_014588.6
p.P58L
c.173C>T
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