Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.R55R

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.R55R
c.165C>T
Surrounding Variants
1 paper
NM_007374.3
p.L54L
c.162A>T
1 paper
NM_007374.3
p.I59M
c.177C>G
1 paper
NM_007374.3
p.E51K
c.151G>A
1 paper
NM_007374.3
p.G64S
c.190G>A
1 paper
NM_007374.3
p.A46T
c.136G>A
1 paper
NM_007374.3
p.E45_A46delFs
c.135_136delGG
1 paper
NM_007374.3
p.A40T
c.118G>A
1 paper
NM_007374.3
p.L74_F79delFs
c.221_236del16
5 papers
NM_007374.3
p.L37P
c.110T>C
2 papers
NM_007374.3
p.P38_A42delFs
c.112_124del13
1 paper
NM_007374.3
p.N76delFs
c.226_227delAA
1 paper
NM_007374.3
p.R32P
c.95G>C
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