Varaico: Literature-Extracted Genetic Variants

Gene:VSX1
Variant:p.C100S

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.C100S
c.298T>A
Surrounding Variants
1 paper
NM_014588.6
p.C100R
c.298T>C
2 papers
NM_014588.6
p.C100S
c.299G>C
3 papers
NM_014588.6
p.P99S
c.295C>T
1 paper
NM_014588.6
p.A96A
c.288T>A
1 paper
NM_014588.6
p.A95delFs
c.284delG
1 paper
NM_014588.6
p.A104E
c.311C>A
1 paper
NM_014588.6
p.D105Y
c.313G>T
7 papers
NM_014588.6
p.D105E
c.315C>G
7 papers
NM_014588.6
p.D105E
c.315C>A
2 papers
NM_014588.6
p.P92P
c.276G>A
1 paper
NM_014588.6
p.F108L
c.322T>C
1 paper
NM_014588.6
p.F108I
c.322T>A
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