Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.A331T

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.A331T
c.991G>A
Surrounding Variants
1 paper
NM_182894.3
p.P327Q
c.980C>A
1 paper
NM_182894.3
p.M343K
c.1028T>A
1 paper
NM_182894.3
p.T318S
c.953C>G
1 paper
NM_182894.3
p.T318S
c.952A>T
1 paper
NM_182894.3
p.D344A
c.1031A>C
1 paper
NM_182894.3
p.Q314*
c.940C>T
1 paper
NM_182894.3
p.A349V
c.1046C>T
2 papers
NM_182894.3
p.S353delFs
c.1059delT
2 papers
NM_182894.3
p.P354fs
c.1060_1061fs
1 paper
NM_182894.3
p.E300A
c.899A>C
1 paper
NM_182894.3
p.A292G
c.875C>G
6 papers
NM_182894.3
p.D291N
c.871G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."