Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.Y143insFs

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.Y143insFs
c.429dupC
Surrounding Variants
1 paper
NM_005982.4
p.E141G
c.422A>G
1 paper
NM_005982.4
p.E141*
c.421G>T
1 paper
NM_005982.4
p.R140L
c.419G>T
1 paper
NM_005982.4
p.R140W
c.418C>T
1 paper
NM_005982.4
p.Y148Y
c.444C>T
1 paper
NM_005982.4
p.P151L
c.452C>T
2 papers
NM_005982.4
p.K134R
c.401A>G
2 papers
NM_005982.4
p.K154*
c.460A>T
8 papers
NM_005982.4
p.E133del1
c.397_399delCTC
1 paper
NM_005982.4
p.E156insFs
c.467_468insT
1 paper
NM_005982.4
p.C130del1
c.388_389delGCA
4 papers
NM_005982.4
p.Y129_F131del0
c.386_391del6
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