Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_182894.3
p.T2delFs
c.4_5delAC
1 paper
NM_182894.3
p.K4_A5del2
c.10_14del6
1 paper
NM_182894.3
p.A5_G6ins0
c.15_17dupAGG
1 paper
NM_182894.3
p.G6W
c.16G>T
1 paper
NM_182894.3
p.L9insFs
c.26dupT
1 paper
NM_182894.3
p.K11insFs
c.32_33insC
1 paper
NM_182894.3
p.K11_P12delFs
c.33_34delGC
1 paper
NM_182894.3
p.E15insFs
c.43dupG
2 papers
NM_182894.3
p.A18D
c.53C>A
2 papers
NM_182894.3
p.G24insFs
c.71_72insG
1 paper
NM_182894.3
p.G23A
c.68G>C
1 paper
NM_182894.3
p.A25fs
c.73_74fs
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