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.T243fs

c.727_728fs

Surrounding Variants

1 paper

NM_016042.4

p.T243delFs

c.727delT

1 paper

NM_016042.4

p.I244I

c.732C>A

1 paper

NM_016042.4

p.Q245*

c.733C>T

1 paper

NM_016042.4

p.Q245E

c.733C>G

2 papers

NM_016042.4

p.V239insFs

c.716dupT

3 papers

NM_016042.4

p.V239I

c.715G>A

1 paper

NM_016042.4

p.R236_Q246del11

c.706_737del33

1 paper

NM_016042.4

p.L248V

c.742T>G

16 papers

NM_016042.4

p.W238R

c.712T>C

16 papers

NM_016042.4

p.W238R

c.712T>A

2 papers

NM_016042.4

p.L248*

c.743T>G

2 papers

NM_016042.4

p.L248*

c.743T>A