Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.C130del1

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.C130del1
c.388_389delGCA
Surrounding Variants
4 papers
NM_005982.4
p.Y129_F131del0
c.386_391del6
1 paper
NM_005982.4
p.C130S
c.389G>C
25 papers
NM_005982.4
p.Y129C
c.386A>G
5 papers
NM_005982.4
p.Y129S
c.386A>C
2 papers
NM_005982.4
p.Y129H
c.385T>C
8 papers
NM_005982.4
p.E133del1
c.397_399delCTC
2 papers
NM_005982.4
p.K134R
c.401A>G
1 paper
NM_005982.4
p.T127I
c.380C>T
1 paper
NM_005982.4
p.T127S
c.380C>G
1 paper
NM_005982.4
p.T127S
c.379A>T
2 papers
NM_005982.4
p.E126del1
c.376_377delCTC
2 papers
NM_005982.4
p.E125*
c.373G>T
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