Varaico: Literature-Extracted Genetic Variants

UTP20

130 papers

RefSeq Summary

UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by ...

Pfam Domains

UTP20_Naa 909–1534UCSCU3 small nucleolar RNA-associated protein 20, N-terminal

UTP20aa 1810–2030UCSCU3 small nucleolar RNA-associated protein 20 domain

UTP20_Caa 2380–2763UCSCSmall subunit processome component 20 homolog, C-terminal

Gene Aliases

HGNC Name

UTP20 small subunit processome component

HGNC Alias Symbols

DRIM; 1A6/DRIM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014503.3

p.F2544L

c.7630T>C

Surrounding Variants

1 paper

NM_014503.3

p.F2544L

c.7632C>A

1 paper

NM_014503.3

p.F2544L

c.7632C>G

1 paper

NM_014503.3

p.P2496L

c.7487C>T

2 papers

NM_014503.3

p.E2612Q

c.7834G>C

1 paper

NM_014503.3

p.L2642V

c.7924T>G

1 paper

NM_014503.3

p.A2672S

c.8014G>T

1 paper

NM_014503.3

p.L2711L

c.8131T>C

1 paper

NM_014503.3

p.F2713insFs

c.8137_8138insG

1 paper

NM_014503.3

p.F2713fs

c.8137_8138fs

1 paper

NM_014503.3

p.A2714del1

c.8140_8142delGCC

1 paper

NM_014503.3

p.K2718ins1

c.8152_8153insGGC

1 paper

NM_014503.3

p.Q2719delFs

c.8155delC