Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.V106G

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
10 papers
NM_005982.4
p.V106G
c.317T>G
Surrounding Variants
1 paper
NM_005982.4
p.V106M
c.316G>A
1 paper
NM_005982.4
p.G107S
c.319G>A
1 paper
NM_005982.4
p.A105S
c.313G>T
2 papers
NM_005982.4
p.L103fs
c.307_308fs
3 papers
NM_005982.4
p.L103insFs
c.307dupC
1 paper
NM_005982.4
p.L103fs
c.307_308fs
22 papers
NM_005982.4
p.R110W
c.328C>T
1 paper
NM_005982.4
p.R110G
c.328C>G
12 papers
NM_005982.4
p.R110Q
c.329G>A
1 paper
NM_005982.4
p.P102T
c.304C>A
9 papers
NM_005982.4
p.R112C
c.334C>T
1 paper
NM_005982.4
p.R113Q
c.338G>A
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