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

1–12 of 388 variants

71 papers

NM_016042.4

p.D132A

c.395A>C

49 papers

NM_016042.4

p.G31A

c.92G>C

16 papers

NM_016042.4

p.W238R

c.712T>C

16 papers

NM_016042.4

p.W238R

c.712T>A

14 papers

NM_016042.4

p.V80F

c.238G>T

11 papers

NM_016042.4

p.G191C

c.571G>T

8 papers

NM_016042.4

p.M1T

c.2T>C

8 papers

NM_016042.4

p.R64P

c.191G>C

8 papers

NM_016042.4

p.Y109N

c.325T>A

8 papers

NM_016042.4

p.A139P

c.415G>C

8 papers

NM_016042.4

p.Q158_V159Splc

c.475-12A>G

6 papers

NM_016042.4

p.G135E

c.404G>A