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

4 papers

NM_016042.4

p.M1V

c.1A>G

Surrounding Variants

2 papers

NM_016042.4

p.M1L

c.1A>T

1 paper

NM_016042.4

p.M1L

c.1A>C

1 paper

NM_016042.4

p.M1insFs

c.1dupA

8 papers

NM_016042.4

p.M1T

c.2T>C

2 papers

NM_016042.4

p.M1K

c.2T>A

3 papers

NM_016042.4

p.M1I

c.3G>T

2 papers

NM_016042.4

p.M1insFs

c.2dupT

1 paper

NM_016042.4

p.M1insFs

c.1_2dupAT

2 papers

NM_016042.4

p.M1I

c.3G>C

2 papers

NM_016042.4

p.M1I

c.3G>A

1 paper

NM_016042.4

p.M1delFs

c.2delA

1 paper

NM_016042.4

p.A2S

c.4G>T