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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIX5

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 117 variants

10 papers

chr19:45765818 G>A

NM_175875.5

p.P635S

c.1903C>T

Exome: 46.7% (AC=677894, hom=162087)Genome: 44.3% (AC=67303, hom=15502)9 overlapping SVs

8 papers

chr19:45768373 C>T

NM_175875.5

p.A158T

c.472G>A

SIX1_SD

Exome: 0.0% (AC=446, hom=0)Genome: 0.0% (AC=29, hom=0)10 overlapping SVs

7 papers

chr19:45766066 G>A

NM_175875.5

p.T552M

c.1655C>T

Exome: 0.0% (AC=357, hom=0)Genome: 0.0% (AC=37, hom=0)10 overlapping SVs

6 papers

chr19:45767073 C>T

NM_175875.5

p.A296T

c.886G>A

Exome: 0.0% (AC=266, hom=0)Genome: 0.0% (AC=15, hom=0)10 overlapping SVs

6 papers

chr19:45766866 C>T

NM_175875.5

p.G365R

c.1093G>A

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

6 papers

chr19:45766055 G>C

NM_175875.5

p.L556V

c.1666C>G

Exome: 83.3% (AC=1215690, hom=507537)Genome: 86.9% (AC=132221, hom=57864)10 overlapping SVs

5 papers

chr19:45766070 C>T

NM_175875.5

p.V551M

c.1651G>A

Exome: 0.0% (AC=48, hom=1)Genome: 0.0% (AC=7, hom=0)10 overlapping SVs

4 papers

chr19:45766866 C>G

NM_175875.5

p.G365R

c.1093G>C

exact variant not in gnomAD10 overlapping SVs

3 papers

chr19:45767127 C>T

NM_175875.5

p.D278N

c.832G>A

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

3 papers

chr19:45765743 C>T

NM_175875.5

p.A660T

c.1978G>A

Exome: 0.0% (AC=501, hom=5)Genome: 0.0% (AC=31, hom=0)9 overlapping SVs

3 papers

chr19:45765644 C>T

NM_175875.5

p.V693M

c.2077G>A

Exome: 34.5% (AC=504731, hom=89016)Genome: 32.9% (AC=49984, hom=8345)9 overlapping SVs

2 papers

chr19:45768729 A>G

NM_175875.5

p.L39S

c.116T>C

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."