Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.L39S

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
2 papers
NM_175875.5
p.L39S
c.116T>C
Surrounding Variants
1 paper
NM_175875.5
p.R33H
c.98G>A
1 paper
NM_175875.5
p.R33C
c.97C>T
1 paper
NM_175875.5
p.E31G
c.92A>G
1 paper
NM_175875.5
p.E28K
c.82G>A
1 paper
NM_175875.5
p.T25T
c.75C>T
1 paper
NM_175875.5
p.T25T
c.75C>G
1 paper
NM_175875.5
p.T25T
c.75C>A
1 paper
NM_175875.5
p.T25A
c.73A>G
1 paper
NM_175875.5
p.A24V
c.71C>T
1 paper
NM_175875.5
p.A24G
c.71C>G
1 paper
NM_175875.5
p.A24delFs
c.70delC
1 paper
NM_175875.5
p.A52_A54ins1
c.156_161dup6
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