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.Q264*

c.790C>T

Surrounding Variants

1 paper

NM_016042.4

p.R265K

c.794G>A

1 paper

NM_016042.4

p.S262L

c.785C>T

1 paper

NM_016042.4

p.R265delFs

c.794delC

1 paper

NM_016042.4

p.T261K

c.782C>A

2 papers

NM_016042.4

p.Q267*

c.799C>T

2 papers

NM_016042.4

p.I268T

c.803T>C

1 paper

NM_016042.4

p.H259Y

c.775C>T

1 paper

NM_016042.4

p.C257*

c.771T>A

1 paper

NM_016042.4

p.C257Y

c.770G>A

1 paper

NM_016042.4

p.S270delFs

c.810delG

1 paper

NM_016042.4

p.R271I

c.812G>T

1 paper

NM_016042.4

p.R271K

c.812G>A