Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.R200P

VSX2

146 papers

RefSeq Summary

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provi...

Pfam Domains

Homeodomainaa 149–205UCSCHomeodomain
OARaa 300–318UCSCOAR motif

Gene Aliases

HGNC Name

visual system homeobox 2

HGNC Previous Symbols

HOX10; CHX10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_182894.3
p.R200P
c.599G>C
Surrounding Variants
27 papers
NM_182894.3
p.R200Q
c.599G>A
4 papers
NM_182894.3
p.R200*
c.598C>T
1 paper
NM_182894.3
p.R200fs
c.598_599fs
1 paper
NM_182894.3
p.R200delFs
c.598delC
3 papers
NM_182894.3
p.R199C
c.595C>T
1 paper
NM_182894.3
p.W203R
c.607T>A
1 paper
NM_182894.3
p.W203R
c.607T>C
1 paper
NM_182894.3
p.W195*
c.585G>A
1 paper
NM_182894.3
p.W195*
c.584G>A
1 paper
NM_182894.3
p.R212delFs
c.634delC
1 paper
NM_182894.3
p.R212Q
c.635G>A
1 paper
NM_182894.3
p.E218D
c.654G>C
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