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.L79delFs

c.235delG

Surrounding Variants

14 papers

NM_016042.4

p.V80F

c.238G>T

1 paper

NM_016042.4

p.V80D

c.239T>A

1 paper

NM_016042.4

p.R77C

c.229C>T

1 paper

NM_016042.4

p.G75_D76del2

c.223_227del6

2 papers

NM_016042.4

p.D76fs

c.226_227fs

1 paper

NM_016042.4

p.K82E

c.244A>G

1 paper

NM_016042.4

p.D76G

c.227A>G

4 papers

NM_016042.4

p.D76insFs

c.226dupG

1 paper

NM_016042.4

p.D76fs

c.226_227fs

1 paper

NM_016042.4

p.G75V

c.224G>T

1 paper

NM_016042.4

p.C83Y

c.248G>A

1 paper

NM_016042.4

p.L79_K82delFs

c.236_246del11