Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Q22*

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
Selected Variant
3 papers
NM_005982.4
p.Q22*
c.64C>T
Surrounding Variants
1 paper
NM_005982.4
p.Q22fs
c.64_65fs
2 papers
NM_005982.4
p.L21L
c.63G>A
1 paper
NM_005982.4
p.V20insFs
c.58_59ins7
1 paper
NM_005982.4
p.Q23_G24insFs
c.69_70insG
1 paper
NM_005982.4
p.G24A
c.71G>C
3 papers
NM_005982.4
p.G24D
c.71G>A
1 paper
NM_005982.4
p.G24G
c.72C>G
1 paper
NM_005982.4
p.G24fs
c.70_71fs
1 paper
NM_005982.4
p.G24G
c.72C>A
1 paper
NM_005982.4
p.G24delFs
c.70delC
1 paper
NM_005982.4
p.G25G
c.75A>G
1 paper
NM_005982.4
p.V17G
c.50T>G
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