Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Y92Y

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
1 paper
NM_005982.4
p.Y92Y
c.276C>T
Surrounding Variants
1 paper
NM_005982.4
p.Y92fs
c.274_275fs
2 papers
NM_005982.4
p.Y92fs
c.274_275fs
2 papers
NM_005982.4
p.H91_Y92insFs
c.273_274insC
1 paper
NM_005982.4
p.A95V
c.284C>T
1 paper
NM_005982.4
p.A95fs
c.283_284fs
1 paper
NM_005982.4
p.L98insFs
c.293_294insC
1 paper
NM_005982.4
p.H80_K82delFs
c.239_245del7
1 paper
NM_005982.4
p.P102T
c.304C>A
1 paper
NM_005982.4
p.L103fs
c.307_308fs
3 papers
NM_005982.4
p.L103insFs
c.307dupC
1 paper
NM_005982.4
p.P81delFs
c.243delG
1 paper
NM_005982.4
p.K82fs
c.244_245fs
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