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.A187A

c.561C>T

Surrounding Variants

1 paper

NM_016042.4

p.N188H

c.562A>C

1 paper

NM_016042.4

p.N188S

c.563A>G

1 paper

NM_016042.4

p.G189*

c.565G>T

2 papers

NM_016042.4

p.R186Q

c.557G>A

2 papers

NM_016042.4

p.R186G

c.556C>G

1 paper

NM_016042.4

p.C184W

c.552T>G

3 papers

NM_016042.4

p.C184delFs

c.551delC

11 papers

NM_016042.4

p.G191C

c.571G>T

1 paper

NM_016042.4

p.C184fs

c.550_551fs

1 paper

NM_016042.4

p.G191V

c.572G>T

1 paper

NM_016042.4

p.G191A

c.572G>C

5 papers

NM_016042.4

p.G191D

c.572G>A