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

2 papers

NM_016042.4

p.A59V

c.176C>T

Surrounding Variants

1 paper

NM_016042.4

p.A59P

c.175G>C

1 paper

NM_016042.4

p.A59T

c.175G>A

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.C60delFs

c.180delG

1 paper

NM_016042.4

p.A57V

c.170C>T

1 paper

NM_016042.4

p.A57S

c.169G>T

1 paper

NM_016042.4

p.R62W

c.184C>T

1 paper

NM_016042.4

p.R62L

c.185G>T

2 papers

NM_016042.4

p.R62Q

c.185G>A

1 paper

NM_016042.4

p.R62R

c.186G>T

1 paper

NM_016042.4

p.N56H

c.166A>C