Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.S266A

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.S266A
c.796T>G
Surrounding Variants
1 paper
NM_182894.3
p.P270L
c.809C>T
1 paper
NM_182894.3
p.P270P
c.810C>T
1 paper
NM_182894.3
p.E273A
c.818A>C
1 paper
NM_182894.3
p.K258N
c.774G>C
1 paper
NM_182894.3
p.K258N
c.774G>T
2 papers
NM_182894.3
p.K258fs
c.772_773fs
3 papers
NM_182894.3
p.R274C
c.820C>T
3 papers
NM_182894.3
p.K258delFs
c.773delA
1 paper
NM_182894.3
p.H256_A262delFs
c.767_786del20
3 papers
NM_182894.3
p.L277L
c.831G>A
1 paper
NM_182894.3
p.M283T
c.848T>C
1 paper
NM_182894.3
p.E284Q
c.850G>C
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