Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.G223A

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
4 papers
NM_182894.3
p.G223A
c.668G>C
Surrounding Variants
3 papers
NM_182894.3
p.G223R
c.667G>A
3 papers
NM_182894.3
p.G223R
c.667G>C
1 paper
NM_182894.3
p.Y222Y
c.666C>T
1 paper
NM_182894.3
p.A224T
c.670G>A
1 paper
NM_182894.3
p.V226_R227del2
c.676_680del6
1 paper
NM_182894.3
p.L221fs
c.661_662fs
10 papers
NM_182894.3
p.R227W
c.679C>T
2 papers
NM_182894.3
p.R227Q
c.680G>A
1 paper
NM_182894.3
p.R227P
c.680G>C
1 paper
NM_182894.3
p.Y219_G220insFs
c.656_659dup4
1 paper
NM_182894.3
p.E218D
c.654G>C
1 paper
NM_182894.3
p.E218D
c.654G>T
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