Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.F135I

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.F135I
c.403T>A
Surrounding Variants
1 paper
NM_007374.3
p.F135_K136del2
c.403_407del6
1 paper
NM_007374.3
p.F135C
c.404T>G
3 papers
NM_007374.3
p.C134_F135insFs
c.402_403insC
1 paper
NM_007374.3
p.H133P
c.398A>C
2 papers
NM_007374.3
p.R140W
c.418C>T
32 papers
NM_007374.3
p.H141N
c.421C>A
13 papers
NM_007374.3
p.E129K
c.385G>A
1 paper
NM_007374.3
p.H141R
c.422A>G
1 paper
NM_007374.3
p.L142M
c.424C>A
1 paper
NM_007374.3
p.L143I
c.427C>A
1 paper
NM_007374.3
p.L143V
c.427C>G
1 paper
NM_007374.3
p.R144C
c.430C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."