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.G39delins

c.116_117delinsAA

Surrounding Variants

1 paper

NM_016046.5

p.L37L

c.111T>C

1 paper

NM_016046.5

p.S36S

c.108G>T

8 papers

NM_016046.5

p.S35L

c.104C>T

1 paper

NM_016046.5

p.E46*

c.136G>T

1 paper

NM_016046.5

p.I33L

c.97A>C

1 paper

NM_016046.5

p.N47S

c.140A>G

1 paper

NM_016046.5

p.G48R

c.142G>C

1 paper

NM_016046.5

p.G31A

c.92G>C

3 papers

NM_016046.5

p.G31D

c.92G>A

2 papers

NM_016046.5

p.H30L

c.89A>T

1 paper

NM_016046.5

p.A49G

c.146C>G

1 paper

NM_016046.5

p.A49_L50Splc

c.147+2T>A