Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.N174K

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
2 papers
NM_005982.4
p.N174K
c.522C>A
Surrounding Variants
2 papers
NM_005982.4
p.N174K
c.522C>G
3 papers
NM_005982.4
p.N174Y
c.520A>T
4 papers
NM_005982.4
p.K173N
c.519G>T
5 papers
NM_005982.4
p.K173N
c.519G>C
1 paper
NM_005982.4
p.R175_R176delFs
c.525_526delTC
20 papers
NM_005982.4
p.Q177R
c.530A>G
2 papers
NM_005982.4
p.W171C
c.513G>T
2 papers
NM_005982.4
p.W171C
c.513G>C
1 paper
NM_005982.4
p.W171*
c.513G>A
1 paper
NM_005982.4
p.W171*
c.512G>A
2 papers
NM_005982.4
p.R178T
c.533G>C
1 paper
NM_005982.4
p.R178K
c.533G>A
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