Varaico: Literature-Extracted Genetic Variants

EXOSC3

678 papers

RefSeq Summary

This gene encodes a non-catalytic component of the human exosome, a complex with 3'-5' exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudog...

Pfam Domains

RRP40_N_mammaa 26–105UCSCMammalian exosome complex component RRP40, N-terminal

RRP40_S1aa 109–191UCSCExosome complex component RRP40, S1 domain

KH_6aa 197–245UCSCKH domain

Gene Aliases

HGNC Name

exosome component 3

HGNC Alias Symbols

hRrp40p; Rrp40p; RRP40; CGI-102; p10; hRrp-40

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016042.4

p.C74Y

c.221G>A

Surrounding Variants

1 paper

NM_016042.4

p.R73delFs

c.219delG

1 paper

NM_016042.4

p.R73R

c.219C>T

1 paper

NM_016042.4

p.R73delFs

c.218delC

1 paper

NM_016042.4

p.G75V

c.224G>T

1 paper

NM_016042.4

p.R73C

c.217C>T

1 paper

NM_016042.4

p.R72insFs

c.215dupG

1 paper

NM_016042.4

p.D76fs

c.226_227fs

1 paper

NM_016042.4

p.R72L

c.215G>T

2 papers

NM_016042.4

p.R72Q

c.215G>A

1 paper

NM_016042.4

p.D76G

c.227A>G

4 papers

NM_016042.4

p.D76insFs

c.226dupG

2 papers

NM_016042.4

p.D76fs

c.226_227fs