Varaico: Literature-Extracted Genetic Variants

SKIC8

26 papers

RefSeq Summary

WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [...

Pfam Domains

WD40aa 7–48UCSCWD domain, G-beta repeat

WD40aa 54–92UCSCWD domain, G-beta repeat

WD40aa 96–133UCSCWD domain, G-beta repeat

WD40aa 138–176UCSCWD domain, G-beta repeat

WD40aa 180–218UCSCWD domain, G-beta repeat

WD40aa 222–260UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

SKI8 subunit of superkiller complex

HGNC Previous Symbol

WDR61

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025234.3

p.A155P

c.463G>C

Surrounding Variants

1 paper

NM_025234.3

p.A113V

c.338C>T

1 paper

NM_025234.3

p.P158L

c.473C>T

2 papers

NM_025234.3

p.L182F

c.544C>T

1 paper

NM_025234.3

p.W91L

c.272G>T

2 papers

NM_025234.3

p.R89H

c.266G>A

1 paper

NM_025234.3

p.L76L

c.226C>T

1 paper

NM_025234.3

p.T75S

c.224C>G

1 paper

NM_025234.3

p.E52*

c.154G>T

1 paper

NM_025234.3

p.D42V

c.125A>T

1 paper

NM_025234.3

p.T37K

c.110C>A

1 paper

NM_025234.3

p.A23T

c.67G>A

1 paper

NM_025234.3

p.I19insFs

c.55_56ins4