Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.D246E

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.D246E
c.738C>G
Surrounding Variants
1 paper
NM_182894.3
p.D246E
c.738C>A
1 paper
NM_182894.3
p.D246N
c.736G>A
1 paper
NM_182894.3
p.I244_M245del2
c.730_734del6
3 papers
NM_182894.3
p.G243D
c.728G>A
2 papers
NM_182894.3
p.P250P
c.750G>A
1 paper
NM_182894.3
p.W251*
c.752G>A
1 paper
NM_182894.3
p.W251*
c.753G>A
1 paper
NM_182894.3
p.P233L
c.698C>T
1 paper
NM_182894.3
p.I230T
c.689T>C
2 papers
NM_182894.3
p.R227Q
c.680G>A
1 paper
NM_182894.3
p.R227P
c.680G>C
10 papers
NM_182894.3
p.R227W
c.679C>T
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