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.G31G

c.93T>A

Surrounding Variants

1 paper

NM_016042.4

p.G31G

c.93T>C

49 papers

NM_016042.4

p.G31A

c.92G>C

1 paper

NM_016042.4

p.G31S

c.91G>A

1 paper

NM_016042.4

p.E32G

c.95A>G

1 paper

NM_016042.4

p.E32D

c.96G>C

1 paper

NM_016042.4

p.E33K

c.97G>A

4 papers

NM_016042.4

p.P30L

c.89C>T

1 paper

NM_016042.4

p.P30R

c.89C>G

1 paper

NM_016042.4

p.P30A

c.88C>G

1 paper

NM_016042.4

p.E33G

c.98A>G

1 paper

NM_016042.4

p.E32_E33delFs

c.96_97delCC

1 paper

NM_016042.4

p.L34L

c.100C>T