Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.E156insFs

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.E156insFs
c.467_468insT
Surrounding Variants
1 paper
NM_005982.4
p.A158P
c.472G>C
1 paper
NM_005982.4
p.A158T
c.472G>A
1 paper
NM_005982.4
p.A158G
c.473C>G
2 papers
NM_005982.4
p.K154*
c.460A>T
1 paper
NM_005982.4
p.E159K
c.475G>A
1 paper
NM_005982.4
p.P151L
c.452C>T
1 paper
NM_005982.4
p.G162D
c.485G>A
1 paper
NM_005982.4
p.Y148Y
c.444C>T
3 papers
NM_005982.4
p.Q167H
c.501G>T
3 papers
NM_005982.4
p.Q167H
c.501G>C
1 paper
NM_005982.4
p.Y143insFs
c.429dupC
1 paper
NM_005982.4
p.N170K
c.510C>G
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