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.E3_P4insFs

c.9_10insGT

Surrounding Variants

1 paper

NM_016042.4

p.E3E

c.9A>G

1 paper

NM_016042.4

p.P4A

c.10C>G

2 papers

NM_016042.4

p.P4T

c.10C>A

1 paper

NM_016042.4

p.A2insFs

c.6dupC

1 paper

NM_016042.4

p.P4delFs

c.10delG

1 paper

NM_016042.4

p.A2A

c.6C>A

1 paper

NM_016042.4

p.A5P

c.13G>C

1 paper

NM_016042.4

p.A2delFs

c.4delC

1 paper

NM_016042.4

p.A2S

c.4G>T

1 paper

NM_016042.4

p.A5V

c.14C>T

1 paper

NM_016042.4

p.A5G

c.14C>G

3 papers

NM_016042.4

p.M1I

c.3G>T