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

1 paper

NM_016042.4

p.L211_E216delFs

c.631_647del17

Surrounding Variants

1 paper

NM_016042.4

p.I217_I218delFs

c.649_652del4

1 paper

NM_016042.4

p.I218insFs

c.654dupA

1 paper

NM_016042.4

p.Q219R

c.656A>G

1 paper

NM_016042.4

p.Q219P

c.656A>C

1 paper

NM_016042.4

p.Q219H

c.657G>T

1 paper

NM_016042.4

p.Q219H

c.657G>C

1 paper

NM_016042.4

p.P213delFs

c.637delG

1 paper

NM_016042.4

p.G222R

c.664G>A

1 paper

NM_016042.4

p.L211L

c.631T>C

1 paper

NM_016042.4

p.K209Splc

c.627-1G>A

1 paper

NM_016042.4

p.K209T

c.626A>C

2 papers

NM_016042.4

p.Y225H

c.673T>C