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.C15W

c.45T>G

Surrounding Variants

1 paper

NM_016046.5

p.C15*

c.45T>A

1 paper

NM_016046.5

p.C15Y

c.44G>A

1 paper

NM_016046.5

p.N16I

c.47A>T

1 paper

NM_016046.5

p.L14P

c.41T>C

1 paper

NM_016046.5

p.L14Q

c.41T>A

1 paper

NM_016046.5

p.E18*

c.52G>T

1 paper

NM_016046.5

p.E18D

c.54G>C

1 paper

NM_016046.5

p.E19D

c.57G>T

1 paper

NM_016046.5

p.G11A

c.32G>C

1 paper

NM_016046.5

p.G11D

c.32G>A

1 paper

NM_016046.5

p.G11R

c.31G>C

1 paper

NM_016046.5

p.S21N

c.62G>A