Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.P70delFs

SIX5

135 papers

RefSeq Summary

The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotoni...

Pfam Domains

SIX1_SDaa 86–196UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 206–258UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 5

HGNC Previous Symbol

DMAHP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175875.5
p.P70delFs
c.210delG
Surrounding Variants
1 paper
NM_175875.5
p.S72fs
c.214_215fs
1 paper
NM_175875.5
p.V69A
c.206T>C
1 paper
NM_175875.5
p.E75fs
c.223_224fs
1 paper
NM_175875.5
p.A76S
c.226G>T
1 paper
NM_175875.5
p.S78S
c.234C>T
1 paper
NM_175875.5
p.A59A
c.177G>C
1 paper
NM_175875.5
p.S87P
c.259T>C
1 paper
NM_175875.5
p.A52_A54ins1
c.156_161dup6
1 paper
NM_175875.5
p.E96Q
c.286G>C
1 paper
NM_175875.5
p.E96K
c.286G>A
2 papers
NM_175875.5
p.L39S
c.116T>C
1 paper
NM_175875.5
p.R33H
c.98G>A
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