Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.R131S

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
9 papers
NM_014588.6
p.R131S
c.391C>A
Surrounding Variants
1 paper
NM_014588.6
p.R131C
c.391C>T
3 papers
NM_014588.6
p.R131P
c.392G>C
1 paper
NM_014588.6
p.A128A
c.384G>C
1 paper
NM_014588.6
p.A128A
c.384G>A
1 paper
NM_014588.6
p.R134R
c.402C>T
2 papers
NM_014588.6
p.R124H
c.371G>A
2 papers
NM_014588.6
p.V138L
c.412G>C
1 paper
NM_014588.6
p.R124C
c.370C>T
1 paper
NM_014588.6
p.R124S
c.370C>A
2 papers
NM_014588.6
p.S139P
c.415T>C
1 paper
NM_014588.6
p.S139S
c.417C>T
1 paper
NM_014588.6
p.S139S
c.417C>A
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