Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.I208delFs

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
2 papers
NM_014588.6
p.I208delFs
c.624delT
Surrounding Variants
1 paper
NM_014588.6
p.Q209*
c.625C>T
2 papers
NM_014588.6
p.I208_Q209insFs
c.624_625insA
1 paper
NM_014588.6
p.R207W
c.619C>T
1 paper
NM_014588.6
p.P204R
c.611C>G
2 papers
NM_014588.6
p.Q209_V210Splc
c.627+22C>T
18 papers
NM_014588.6
p.Q209_V210Splc
c.627+23G>A
NM_199425.3
p.R217H
c.650G>A
4 papers
NM_014588.6
p.V199L
c.595G>T
4 papers
NM_014588.6
p.V199L
c.595G>C
1 paper
NM_014588.6
p.A193_E195del3
c.577_584del9
1 paper
NM_014588.6
p.E195A
c.584A>C
1 paper
NM_014588.6
p.Y188_P189del1
c.564_566delGGG
12 papers
NM_014588.6
p.A182A
c.546A>G
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