Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.R184P

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.R184P
c.551G>C
Surrounding Variants
1 paper
NM_007374.3
p.D183delFs
c.549delC
2 papers
NM_007374.3
p.D183H
c.547G>C
1 paper
NM_007374.3
p.A186_A187insFs
c.558_559insGG
1 paper
NM_007374.3
p.N178T
c.533A>C
1 paper
NM_007374.3
p.N178fs
c.532_533fs
3 papers
NM_007374.3
p.N178fs
c.532_533fs
7 papers
NM_007374.3
p.N178_R179delFs
c.532_536del5
1 paper
NM_007374.3
p.N174Y
c.520A>T
1 paper
NM_007374.3
p.P169A
c.505C>G
1 paper
NM_007374.3
p.T168T
c.504C>T
1 paper
NM_007374.3
p.T168S
c.503C>G
1 paper
NM_007374.3
p.T168S
c.502A>T
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