Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.P578P

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.P578P
c.1734G>A
Surrounding Variants
2 papers
NM_175875.5
p.V573L
c.1717G>C
1 paper
NM_175875.5
p.K588_P589insFs
c.1764_1765insT
1 paper
NM_175875.5
p.T591T
c.1773G>T
1 paper
NM_175875.5
p.A565T
c.1693G>A
1 paper
NM_175875.5
p.V595M
c.1783G>A
1 paper
NM_175875.5
p.K560E
c.1678A>G
6 papers
NM_175875.5
p.L556V
c.1666C>G
1 paper
NM_175875.5
p.T552insFs
c.1655dupC
7 papers
NM_175875.5
p.T552M
c.1655C>T
5 papers
NM_175875.5
p.V551M
c.1651G>A
1 paper
NM_175875.5
p.P606L
c.1817C>T
1 paper
NM_175875.5
p.E610V
c.1829A>T
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