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.L55Q

c.164T>A

Surrounding Variants

1 paper

NM_016042.4

p.L55L

c.163C>T

1 paper

NM_016042.4

p.S54delFs

c.161delC

1 paper

NM_016042.4

p.N56H

c.166A>C

1 paper

NM_016042.4

p.A57S

c.169G>T

1 paper

NM_016042.4

p.L53F

c.159G>C

1 paper

NM_016042.4

p.A57V

c.170C>T

1 paper

NM_016042.4

p.P52fs

c.154_155fs

4 papers

NM_016042.4

p.P52delFs

c.155delG

1 paper

NM_016042.4

p.R58T

c.173G>C

1 paper

NM_016042.4

p.R58K

c.173G>A

1 paper

NM_016042.4

p.P52Q

c.155C>A

1 paper

NM_016042.4

p.P52fs

c.154_155fs