Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.Q175H

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
15 papers
NM_014588.6
p.Q175H
c.525G>C
Surrounding Variants
15 papers
NM_014588.6
p.Q175H
c.525G>T
2 papers
NM_014588.6
p.L176L
c.528G>A
2 papers
NM_014588.6
p.T172I
c.515C>T
1 paper
NM_014588.6
p.K181N
c.543G>T
12 papers
NM_014588.6
p.A182A
c.546A>G
1 paper
NM_014588.6
p.R168Splc
c.504-10G>A
1 paper
NM_014588.6
p.Y188_P189del1
c.564_566delGGG
6 papers
NM_014588.6
p.R168Splc
c.504-24C>T
1 paper
NM_014588.6
p.E195A
c.584A>C
1 paper
NM_014588.6
p.A193_E195del3
c.577_584del9
4 papers
NM_014588.6
p.V199L
c.595G>T
4 papers
NM_014588.6
p.V199L
c.595G>C
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