Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.A89V

SIX6

120 papers

RefSeq Summary

The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to...

Pfam Domains

SIX1_SDaa 9–123UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 129–185UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 6

HGNC Previous Symbol

OPTX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007374.3
p.A89V
c.266C>T
Surrounding Variants
1 paper
NM_007374.3
p.L90P
c.269T>C
1 paper
NM_007374.3
p.Q88K
c.262C>A
1 paper
NM_007374.3
p.Q88*
c.262C>T
2 papers
NM_007374.3
p.E93Q
c.277G>C
3 papers
NM_007374.3
p.E93G
c.278A>G
1 paper
NM_007374.3
p.A85D
c.254C>A
1 paper
NM_007374.3
p.A85V
c.254C>T
1 paper
NM_007374.3
p.A94T
c.280G>A
1 paper
NM_007374.3
p.A94P
c.280G>C
1 paper
NM_007374.3
p.H84Y
c.250C>T
3 papers
NM_007374.3
p.S83L
c.248C>T
1 paper
NM_007374.3
p.Y96C
c.287A>G
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