Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.L194V

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.L194V
c.580C>G
Surrounding Variants
1 paper
NM_175875.5
p.D200E
c.600C>G
1 paper
NM_175875.5
p.D200E
c.600C>A
1 paper
NM_175875.5
p.Y225*
c.675C>G
1 paper
NM_175875.5
p.Y225*
c.675C>A
1 paper
NM_175875.5
p.P226P
c.678C>G
1 paper
NM_175875.5
p.D229H
c.685G>C
8 papers
NM_175875.5
p.A158T
c.472G>A
1 paper
NM_175875.5
p.S149I
c.446G>T
1 paper
NM_175875.5
p.R145W
c.433C>T
2 papers
NM_175875.5
p.Q244Q
c.732G>A
1 paper
NM_175875.5
p.E142Q
c.424G>C
1 paper
NM_175875.5
p.F249L
c.745T>C
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