Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.E129K

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
13 papers
NM_007374.3
p.E129K
c.385G>A
Surrounding Variants
1 paper
NM_007374.3
p.H133P
c.398A>C
3 papers
NM_007374.3
p.C134_F135insFs
c.402_403insC
1 paper
NM_007374.3
p.F135_K136del2
c.403_407del6
1 paper
NM_007374.3
p.F135I
c.403T>A
1 paper
NM_007374.3
p.F135C
c.404T>G
1 paper
NM_007374.3
p.P122L
c.365C>T
1 paper
NM_007374.3
p.L121_P122ins1
c.363_364insACA
2 papers
NM_007374.3
p.R140W
c.418C>T
32 papers
NM_007374.3
p.H141N
c.421C>A
1 paper
NM_007374.3
p.H141R
c.422A>G
1 paper
NM_007374.3
p.R116S
c.348G>C
3 papers
NM_007374.3
p.R116G
c.346A>G
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