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.L12_S15delFs

c.35_44del10

Surrounding Variants

1 paper

NM_016042.4

p.S15T

c.44G>C

1 paper

NM_016042.4

p.R16W

c.46A>T

1 paper

NM_016042.4

p.R16K

c.47G>A

1 paper

NM_016042.4

p.R16R

c.48G>A

1 paper

NM_016042.4

p.G14A

c.41G>C

2 papers

NM_016042.4

p.A17T

c.49G>A

2 papers

NM_016042.4

p.A17A

c.51G>A

2 papers

NM_016042.4

p.R18C

c.52C>T

1 paper

NM_016042.4

p.A13E

c.38C>A

2 papers

NM_016042.4

p.R18P

c.53G>C

1 paper

NM_016042.4

p.A13P

c.37G>C

1 paper

NM_016042.4

p.L12insFs

c.35_36insG