Varaico: Literature-Extracted Genetic Variants

Gene:SIX5
Variant:p.C315delFs

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.C315delFs
c.943delA
Surrounding Variants
2 papers
NM_175875.5
p.P316R
c.947C>G
1 paper
NM_175875.5
p.S320A
c.958T>G
1 paper
NM_175875.5
p.L328L
c.982C>T
6 papers
NM_175875.5
p.A296T
c.886G>A
1 paper
NM_175875.5
p.P342T
c.1024C>A
1 paper
NM_175875.5
p.S280C
c.839C>G
1 paper
NM_175875.5
p.G351C
c.1051G>T
3 papers
NM_175875.5
p.D278N
c.832G>A
2 papers
NM_175875.5
p.D271N
c.811G>A
1 paper
NM_175875.5
p.S268_E269insFs
c.804_805insAG
1 paper
NM_175875.5
p.S268Splc
c.804-5G>A
1 paper
NM_175875.5
p.G364V
c.1091G>T
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