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.V7F

c.19G>T

Surrounding Variants

1 paper

NM_016042.4

p.V7A

c.20T>C

1 paper

NM_016042.4

p.S6P

c.16T>C

1 paper

NM_016042.4

p.V7insFs

c.21dupC

2 papers

NM_016042.4

p.A8A

c.24G>T

1 paper

NM_016042.4

p.A5V

c.14C>T

1 paper

NM_016042.4

p.A5G

c.14C>G

1 paper

NM_016042.4

p.A5P

c.13G>C

1 paper

NM_016042.4

p.A9T

c.25G>A

1 paper

NM_016042.4

p.P4delFs

c.10delG

1 paper

NM_016042.4

p.A9G

c.26C>G

1 paper

NM_016042.4

p.A9_E10insFs

c.27_28insG

1 paper

NM_016042.4

p.A9A

c.27T>G