Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.M283T

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.M283T
c.848T>C
Surrounding Variants
1 paper
NM_182894.3
p.E284Q
c.850G>C
1 paper
NM_182894.3
p.D286delFs
c.856delG
1 paper
NM_182894.3
p.E287Q
c.859G>C
3 papers
NM_182894.3
p.L277L
c.831G>A
1 paper
NM_182894.3
p.G289D
c.866G>A
6 papers
NM_182894.3
p.D291N
c.871G>A
1 paper
NM_182894.3
p.A292G
c.875C>G
3 papers
NM_182894.3
p.R274C
c.820C>T
1 paper
NM_182894.3
p.E273A
c.818A>C
1 paper
NM_182894.3
p.P270P
c.810C>T
1 paper
NM_182894.3
p.P270L
c.809C>T
1 paper
NM_182894.3
p.E300A
c.899A>C
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."