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.L71P

c.212T>C

Surrounding Variants

1 paper

NM_016042.4

p.L71F

c.211C>T

1 paper

NM_016042.4

p.C67_G70del4

c.199_209del12

1 paper

NM_016042.4

p.R72L

c.215G>T

2 papers

NM_016042.4

p.R72Q

c.215G>A

1 paper

NM_016042.4

p.G70D

c.209G>A

1 paper

NM_016042.4

p.G70C

c.208G>T

1 paper

NM_016042.4

p.G70S

c.208G>A

1 paper

NM_016042.4

p.R73C

c.217C>T

1 paper

NM_016042.4

p.R72insFs

c.215dupG

2 papers

NM_016042.4

p.P69S

c.205C>T

1 paper

NM_016042.4

p.R73R

c.219C>T

1 paper

NM_016042.4

p.R73delFs

c.218delC