Varaico: Literature-Extracted Genetic Variants

EXOSC1

348 papers

RefSeq Summary

This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this pr...

Pfam Domains

ECR1_Naa 7–44UCSCExosome complex exonuclease RRP4 N-terminal region

EXOSC1aa 35–110UCSCExosome component EXOSC1/CSL4

EXOSC1aa 91–135UCSCExosome component EXOSC1/CSL4

Gene Aliases

HGNC Name

exosome component 1

HGNC Alias Symbols

hCsl4p; Csl4p; CSL4; Ski4p; SKI4; CGI-108; p13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016046.5

p.Q62R

c.185A>G

Surrounding Variants

2 papers

NM_016046.5

p.S61F

c.182C>T

1 paper

NM_016046.5

p.S61A

c.181T>G

1 paper

NM_016046.5

p.S61P

c.181T>C

1 paper

NM_016046.5

p.L63L

c.189A>G

1 paper

NM_016046.5

p.L64Q

c.191T>A

1 paper

NM_016046.5

p.L64L

c.192G>T

1 paper

NM_016046.5

p.T59T

c.177A>T

2 papers

NM_016046.5

p.T59delFs

c.176delG

1 paper

NM_016046.5

p.D66A

c.197A>C

1 paper

NM_016046.5

p.R57K

c.170G>A

1 paper

NM_016046.5

p.V56M

c.166G>A

1 paper

NM_016046.5

p.A69P

c.205G>C