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.V230_G232del3

c.688_695del9

Surrounding Variants

1 paper

NM_016042.4

p.M233I

c.699G>T

1 paper

NM_016042.4

p.M233I

c.699G>C

1 paper

NM_016042.4

p.M233I

c.699G>A

1 paper

NM_016042.4

p.G235R

c.703G>C

1 paper

NM_016042.4

p.G235R

c.703G>A

1 paper

NM_016042.4

p.G235A

c.704G>C

2 papers

NM_016042.4

p.G235E

c.704G>A

1 paper

NM_016042.4

p.R236*

c.706A>T

16 papers

NM_016042.4

p.W238R

c.712T>C

16 papers

NM_016042.4

p.W238R

c.712T>A

1 paper

NM_016042.4

p.E228*

c.682G>T

1 paper

NM_016042.4

p.L227fs

c.679_680fs