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.L198L

c.592C>T

Surrounding Variants

1 paper

NM_016042.4

p.G197G

c.591T>A

1 paper

NM_016042.4

p.G197S

c.589G>A

1 paper

NM_016042.4

p.L199F

c.595C>T

1 paper

NM_016042.4

p.F200C

c.599T>G

1 paper

NM_016042.4

p.Q195delFs

c.584delT

1 paper

NM_016042.4

p.Q195L

c.584A>T

1 paper

NM_016042.4

p.F200insFs

c.599dupT

1 paper

NM_016042.4

p.F200delFs

c.600delA

1 paper

NM_016042.4

p.K201R

c.602A>G

2 papers

NM_016042.4

p.K201N

c.603A>T

1 paper

NM_016042.4

p.K201N

c.603A>C

1 paper

NM_016042.4

p.V202L

c.604G>T