Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.H244R

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
30 papers
NM_014588.6
p.H244R
c.731A>G
Surrounding Variants
1 paper
NM_014588.6
p.R243P
c.728G>C
1 paper
NM_014588.6
p.I246T
c.737T>C
1 paper
NM_014588.6
p.G239_M241delFs
c.716_722del7
2 papers
NM_014588.6
p.M241insFs
c.721_722insA
32 papers
NM_014588.6
p.P247R
c.740C>G
6 papers
NM_014588.6
p.G239R
c.715G>C
6 papers
NM_014588.6
p.G239R
c.715G>A
3 papers
NM_014588.6
p.S251T
c.751T>A
1 paper
NM_014588.6
p.L237P
c.710T>C
1 paper
NM_014588.6
p.G236delFs
c.707delC
1 paper
NM_014588.6
p.V252M
c.754G>A
1 paper
NM_014588.6
p.L253fs
c.757_758fs
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