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.L141F

c.423G>T

Surrounding Variants

1 paper

NM_016042.4

p.L141F

c.423G>C

1 paper

NM_016042.4

p.A139V

c.416C>T

8 papers

NM_016042.4

p.A139P

c.415G>C

1 paper

NM_016042.4

p.S145A

c.433T>G

1 paper

NM_016042.4

p.P138S

c.412C>T

3 papers

NM_016042.4

p.E147K

c.439G>A

3 papers

NM_016042.4

p.G148C

c.442G>T

6 papers

NM_016042.4

p.G135E

c.404G>A

1 paper

NM_016042.4

p.G148S

c.442G>A

1 paper

NM_016042.4

p.E147delFs

c.440delT

2 papers

NM_016042.4

p.G135R

c.403G>C

2 papers

NM_016042.4

p.G135R

c.403G>A