Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.L68H

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
3 papers
NM_014588.6
p.L68H
c.203T>A
Surrounding Variants
1 paper
NM_014588.6
p.G67V
c.200G>T
1 paper
NM_014588.6
p.G70V
c.209G>T
1 paper
NM_014588.6
p.G65del1
c.193_194delGCC
1 paper
NM_014588.6
p.P64L
c.191C>T
1 paper
NM_014588.6
p.C63Y
c.188G>A
2 papers
NM_014588.6
p.P62delFs
c.185delG
2 papers
NM_014588.6
p.P62fs
c.184_185fs
1 paper
NM_014588.6
p.R75G
c.223C>G
1 paper
NM_014588.6
p.A77T
c.229G>A
1 paper
NM_014588.6
p.P58P
c.174G>T
4 papers
NM_014588.6
p.P58L
c.173C>T
2 papers
NM_014588.6
p.P58S
c.172C>T
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