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.F129L

c.385T>C

Surrounding Variants

1 paper

NM_016042.4

p.K130I

c.389A>T

1 paper

NM_016042.4

p.K130T

c.389A>C

1 paper

NM_016042.4

p.V131G

c.392T>G

1 paper

NM_016042.4

p.G126A

c.377G>C

1 paper

NM_016042.4

p.G126E

c.377G>A

2 papers

NM_016042.4

p.G126*

c.376G>T

1 paper

NM_016042.4

p.D132H

c.394G>C

1 paper

NM_016042.4

p.S125S

c.375T>C

71 papers

NM_016042.4

p.D132A

c.395A>C

1 paper

NM_016042.4

p.K124N

c.372A>T

1 paper

NM_016042.4

p.K124N

c.372A>C

1 paper

NM_016042.4

p.G134V

c.401G>T