Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.V17E

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
15 papers
NM_005982.4
p.V17E
c.50T>A
Surrounding Variants
1 paper
NM_005982.4
p.V17G
c.50T>G
1 paper
NM_005982.4
p.C16Y
c.47G>A
1 paper
NM_005982.4
p.C16R
c.46T>C
1 paper
NM_005982.4
p.V20insFs
c.58_59ins7
1 paper
NM_005982.4
p.V14L
c.40G>T
1 paper
NM_005982.4
p.V14L
c.40G>C
2 papers
NM_005982.4
p.L21L
c.63G>A
1 paper
NM_005982.4
p.Q22fs
c.64_65fs
3 papers
NM_005982.4
p.Q22*
c.64C>T
1 paper
NM_005982.4
p.Q11Q
c.33G>A
2 papers
NM_005982.4
p.Q11*
c.31C>T
1 paper
NM_005982.4
p.Q23_G24insFs
c.69_70insG
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