Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.S24R

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.S24R
c.72C>A
Surrounding Variants
1 paper
NM_007374.3
p.S24R
c.72C>G
1 paper
NM_007374.3
p.S24R
c.70A>C
2 papers
NM_007374.3
p.L21L
c.63G>A
1 paper
NM_007374.3
p.V27V
c.81G>C
2 papers
NM_007374.3
p.R29P
c.86G>C
1 paper
NM_007374.3
p.E19*
c.55G>T
2 papers
NM_007374.3
p.V17E
c.50T>A
1 paper
NM_007374.3
p.V17G
c.50T>G
1 paper
NM_007374.3
p.R32P
c.95G>C
2 papers
NM_007374.3
p.P38_A42delFs
c.112_124del13
5 papers
NM_007374.3
p.L37P
c.110T>C
1 paper
NM_007374.3
p.A40T
c.118G>A
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