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

1–12 of 25 variants

2 papers

NM_025234.3

p.R89H

c.266G>A

2 papers

NM_025234.3

p.L182F

c.544C>T

1 paper

NM_025234.3

p.M1delFs

c.2delA

1 paper

NM_025234.3

p.N3T

c.8A>C

1 paper

NM_025234.3

p.A14insFs

c.40_41insTC

1 paper

NM_025234.3

p.D17insFs

c.50_51insT

1 paper

NM_025234.3

p.I19insFs

c.55_56ins4

1 paper

NM_025234.3

p.A23T

c.67G>A

1 paper

NM_025234.3

p.T37K

c.110C>A

1 paper

NM_025234.3

p.D42V

c.125A>T

1 paper

NM_025234.3

p.E52*

c.154G>T

1 paper

NM_025234.3

p.T75S

c.224C>G