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.V23L

c.67G>C

Surrounding Variants

1 paper

NM_016042.4

p.V23L

c.67G>T

1 paper

NM_016042.4

p.V23I

c.67G>A

1 paper

NM_016042.4

p.V23A

c.68T>C

1 paper

NM_016042.4

p.V23E

c.68T>A

1 paper

NM_016042.4

p.V23delFs

c.67delC

1 paper

NM_016042.4

p.A20_T22del3

c.58_65del9

1 paper

NM_016042.4

p.V23_L24delFs

c.67_70del4

1 paper

NM_016042.4

p.R21R

c.63C>T

1 paper

NM_016042.4

p.R21R

c.63C>A

1 paper

NM_016042.4

p.A20V

c.59C>T

1 paper

NM_016042.4

p.G25_Q26delFs

c.75_76delGA

1 paper

NM_016042.4

p.A19D

c.56C>A