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.G152E

c.455G>A

Surrounding Variants

1 paper

NM_016046.5

p.V153M

c.457G>A

1 paper

NM_016046.5

p.V155E

c.464T>A

1 paper

NM_016046.5

p.V155V

c.465A>G

1 paper

NM_016046.5

p.N141_E148delFs

c.421_442del22

1 paper

NM_016046.5

p.E148V

c.443A>T

2 papers

NM_016046.5

p.E148Q

c.442G>C

1 paper

NM_016046.5

p.A147V

c.440C>T

1 paper

NM_016046.5

p.A147T

c.439G>A

1 paper

NM_016046.5

p.T146T

c.438C>T

1 paper

NM_016046.5

p.S158S

c.474T>C

1 paper

NM_016046.5

p.E159K

c.475G>A

1 paper

NM_016046.5

p.Q139*

c.415C>T