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.R208G

c.622A>G

Surrounding Variants

1 paper

NM_016042.4

p.I207_R208insFs

c.619_622dup4

1 paper

NM_016042.4

p.I207T

c.620T>C

1 paper

NM_016042.4

p.G205_I207delFs

c.613_619del7

1 paper

NM_016042.4

p.K209fs

c.625_626fs

2 papers

NM_016042.4

p.L206L

c.618A>G

1 paper

NM_016042.4

p.L206delFs

c.616delA

1 paper

NM_016042.4

p.K209Splc

c.626+1G>A

1 paper

NM_016042.4

p.K209Splc

c.626+2T>C

1 paper

NM_016042.4

p.K209Splc

c.626+5G>A

1 paper

NM_016042.4

p.G205S

c.613G>A

1 paper

NM_016042.4

p.L204Q

c.611T>A

1 paper

NM_016042.4

p.V202L

c.604G>T