Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.L205R

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
5 papers
NM_007374.3
p.L205R
c.614T>G
Surrounding Variants
1 paper
NM_007374.3
p.R206W
c.616C>T
1 paper
NM_007374.3
p.R206Q
c.617G>A
1 paper
NM_007374.3
p.R203Q
c.608G>A
2 papers
NM_007374.3
p.T212M
c.635C>T
1 paper
NM_007374.3
p.P213S
c.637C>T
1 paper
NM_007374.3
p.L216P
c.647T>C
1 paper
NM_007374.3
p.Q193Q
c.579G>A
1 paper
NM_007374.3
p.V218A
c.653T>C
1 paper
NM_007374.3
p.S221_S236del16
c.661_707del48
1 paper
NM_007374.3
p.P222L
c.665C>T
1 paper
NM_007374.3
p.A224insFs
c.670_671insA
1 paper
NM_007374.3
p.L226_S227del2
c.676_680del6
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