Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.P81delFs

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.P81delFs
c.243delC
Surrounding Variants
1 paper
NM_182894.3
p.P81R
c.242C>G
5 papers
NM_182894.3
p.G83delFs
c.249delG
1 paper
NM_182894.3
p.G82delFs
c.244_245delGG
2 papers
NM_182894.3
p.G82R
c.244G>A
2 papers
NM_182894.3
p.G82R
c.244G>C
4 papers
NM_182894.3
p.L84fs
c.250_251fs
1 paper
NM_182894.3
p.M76delFs
c.226_227delAT
1 paper
NM_182894.3
p.G75S
c.223G>A
1 paper
NM_182894.3
p.V73M
c.217G>A
1 paper
NM_182894.3
p.V73L
c.217G>T
2 papers
NM_182894.3
p.T89delFs
c.267delG
1 paper
NM_182894.3
p.Q90fs
c.268_269fs
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