Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.I69_L70insG

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.I69_L70insG
c.205_209ins3
Surrounding Variants
1 paper
NM_005982.4
p.K68E
c.202A>G
9 papers
NM_005982.4
p.H73P
c.218A>C
1 paper
NM_005982.4
p.R64H
c.191G>A
1 paper
NM_005982.4
p.F63L
c.189C>A
1 paper
NM_005982.4
p.F75_S76insFs
c.225_226insAC
1 paper
NM_005982.4
p.S76S
c.228G>A
1 paper
NM_005982.4
p.H78P
c.233A>C
1 paper
NM_005982.4
p.H59P
c.176A>C
1 paper
NM_005982.4
p.F58S
c.173T>C
1 paper
NM_005982.4
p.A57T
c.169G>A
1 paper
NM_005982.4
p.V56delFs
c.167delA
1 paper
NM_005982.4
p.P81delFs
c.243delG
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