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.I118V

c.352A>G

Surrounding Variants

1 paper

NM_016042.4

p.G119_I120insFs

c.357_358insG

2 papers

NM_016042.4

p.G114_D115del1

c.341_343delCTC

2 papers

NM_016042.4

p.K113Q

c.337A>C

1 paper

NM_016042.4

p.A123G

c.368C>G

1 paper

NM_016042.4

p.V112L

c.334G>T

1 paper

NM_016042.4

p.V112L

c.334G>C

2 papers

NM_016042.4

p.V112I

c.334G>A

1 paper

NM_016042.4

p.K124N

c.372A>T

1 paper

NM_016042.4

p.K124N

c.372A>C

1 paper

NM_016042.4

p.P111S

c.331C>T

1 paper

NM_016042.4

p.S125S

c.375T>C

2 papers

NM_016042.4

p.G126*

c.376G>T