Varaico: Literature-Extracted Genetic Variants

Gene:VSX2

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
1–12 of 141 variants
27 papers
NM_182894.3
p.R200Q
c.599G>A
13 papers
NM_182894.3
p.R200P
c.599G>C
10 papers
NM_182894.3
p.R227W
c.679C>T
7 papers
NM_182894.3
p.S157S
c.471C>T
6 papers
NM_182894.3
p.D291N
c.871G>A
5 papers
NM_182894.3
p.G83delFs
c.249delG
5 papers
NM_182894.3
p.D124Splc
c.371-1G>A
4 papers
NM_182894.3
p.L84fs
c.250_251fs
4 papers
NM_182894.3
p.R200*
c.598C>T
4 papers
NM_182894.3
p.G223A
c.668G>C
3 papers
NM_182894.3
p.R199C
c.595C>T
3 papers
NM_182894.3
p.G223R
c.667G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."