Varaico: Literature-Extracted Genetic Variants

Gene:SIX1
Variant:p.K53M

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.K53M
c.158A>T
Surrounding Variants
1 paper
NM_005982.4
p.A54E
c.161C>A
1 paper
NM_005982.4
p.V56delFs
c.167delA
1 paper
NM_005982.4
p.A57T
c.169G>A
1 paper
NM_005982.4
p.F58S
c.173T>C
1 paper
NM_005982.4
p.H59P
c.176A>C
1 paper
NM_005982.4
p.F63L
c.189C>A
1 paper
NM_005982.4
p.R64H
c.191G>A
1 paper
NM_005982.4
p.P38_H42delFs
c.112_124del13
1 paper
NM_005982.4
p.K68E
c.202A>G
1 paper
NM_005982.4
p.I69_L70insG
c.205_209ins3
1 paper
NM_005982.4
p.L34P
c.101T>C
3 papers
NM_005982.4
p.F33S
c.98T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."