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.E38fs

c.112_113fs

Surrounding Variants

1 paper

NM_016042.4

p.E38insFs

c.113dupA

1 paper

NM_016042.4

p.E38A

c.113A>C

2 papers

NM_016042.4

p.E38delFs

c.112delC

1 paper

NM_016042.4

p.E38Q

c.112G>C

1 paper

NM_016042.4

p.Q39R

c.116A>G

1 paper

NM_016042.4

p.Q39insFs

c.115dupC

1 paper

NM_016042.4

p.E38fs

c.112_113fs

2 papers

NM_016042.4

p.P37P

c.111G>A

1 paper

NM_016042.4

p.P37Q

c.110C>A

1 paper

NM_016042.4

p.L36L

c.108G>A

1 paper

NM_016042.4

p.L36R

c.107T>G

1 paper

NM_016042.4

p.L36P

c.107T>C