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.T265A

c.793A>G

Surrounding Variants

1 paper

NM_025234.3

p.C266S

c.796T>A

1 paper

NM_025234.3

p.C266S

c.797G>C

1 paper

NM_025234.3

p.S251L

c.752C>T

1 paper

NM_025234.3

p.A232insFs

c.694_695insA

1 paper

NM_025234.3

p.T227insFs

c.679_680insAG

1 paper

NM_025234.3

p.S291_V292insFs

c.873_874insC

1 paper

NM_025234.3

p.S291S

c.873T>C

2 papers

NM_025234.3

p.L182F

c.544C>T

1 paper

NM_025234.3

p.P158L

c.473C>T

1 paper

NM_025234.3

p.A155P

c.463G>C

1 paper

NM_025234.3

p.A113V

c.338C>T

1 paper

NM_025234.3

p.W91L

c.272G>T