Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.R178W

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
1 paper
NM_182894.3
p.R178W
c.532C>T
Surrounding Variants
1 paper
NM_182894.3
p.Y176*
c.528T>A
1 paper
NM_182894.3
p.Y176*
c.528T>G
1 paper
NM_182894.3
p.V175L
c.523G>C
1 paper
NM_182894.3
p.M183V
c.547A>G
1 paper
NM_182894.3
p.K184_T185ins0
c.550_555dup6
1 paper
NM_182894.3
p.E169K
c.505G>A
1 paper
NM_182894.3
p.E169fs
c.505_506fs
1 paper
NM_182894.3
p.E169delFs
c.506delA
1 paper
NM_182894.3
p.A166_E169del0
c.498_506del9
1 paper
NM_182894.3
p.I192delFs
c.575_576delTA
1 paper
NM_182894.3
p.Q193Q
c.579G>A
1 paper
NM_182894.3
p.E161*
c.481G>T
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