Varaico: Literature-Extracted Genetic Variants

Gene:SIX1

SIX1

182 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 9–119UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeobox_KNaa 142–178UCSCHomeobox KN domain

Gene Aliases

HGNC Name

SIX homeobox 1

HGNC Previous Symbol

DFNA23

Papers
RefSeq ID
Protein change
DNA change
1–12 of 148 variants
25 papers
NM_005982.4
p.Y129C
c.386A>G
22 papers
NM_005982.4
p.R110W
c.328C>T
20 papers
NM_005982.4
p.Q177R
c.530A>G
15 papers
NM_005982.4
p.V17E
c.50T>A
12 papers
NM_005982.4
p.R110Q
c.329G>A
10 papers
NM_005982.4
p.V106G
c.317T>G
10 papers
NM_005982.4
p.W122R
c.364T>A
9 papers
NM_005982.4
p.H73P
c.218A>C
9 papers
NM_005982.4
p.R112C
c.334C>T
9 papers
NM_005982.4
p.W122R
c.364T>C
9 papers
NM_005982.4
p.E125K
c.373G>A
8 papers
NM_005982.4
p.E133del1
c.397_399delCTC
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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."