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.M1I

c.3G>C

Surrounding Variants

1 paper

NM_016046.5

p.M1I

c.3G>T

1 paper

NM_016046.5

p.M1_A2insFs

c.3_4insA

2 papers

NM_016046.5

p.M1I

c.3G>A

1 paper

NM_016046.5

p.M1T

c.2T>C

1 paper

NM_016046.5

p.M1K

c.2T>A

3 papers

NM_016046.5

p.A2V

c.5C>T

1 paper

NM_016046.5

p.M1insFs

c.3dupG

2 papers

NM_016046.5

p.M1V

c.1A>G

1 paper

NM_016046.5

p.A2fs

c.4_5fs

1 paper

NM_016046.5

p.M1_A2delFs

c.2_6del5

1 paper

NM_016046.5

p.P3L

c.8C>T

1 paper

NM_016046.5

p.P4P

c.12T>C