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.V159delFs

c.477delA

Surrounding Variants

1 paper

NM_016042.4

p.G160*

c.478G>T

1 paper

NM_016042.4

p.G160insFs

c.478_479insT

1 paper

NM_016042.4

p.V159fs

c.475_476fs

1 paper

NM_016042.4

p.Q158_V159Splc

c.475-2A>G

9 papers

NM_001002269.2

p.Q158_A159Splc

c.475-1269A>G

NM_016042.4

p.Q158_V159Splc

c.475-12A>G

1 paper

NM_016042.4

p.G165D

c.494G>A

1 paper

NM_016042.4

p.Q166fs

c.496_497fs

1 paper

NM_016042.4

p.Q166*

c.496C>T

1 paper

NM_016042.4

p.Q166K

c.496C>A

1 paper

NM_016042.4

p.Q166R

c.497A>G

1 paper

NM_016042.4

p.F167V

c.499T>G

2 papers

NM_016042.4

p.F167Y

c.500T>A