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.V470F

c.1408G>T

Surrounding Variants

1 paper

NM_014503.3

p.D434D

c.1302T>C

1 paper

NM_014503.3

p.L424V

c.1270C>G

1 paper

NM_014503.3

p.Q417_L418Splc

c.1252-653A>C

1 paper

NM_014503.3

p.N377Y

c.1129A>T

1 paper

NM_014503.3

p.S358S

c.1074C>T

1 paper

NM_014503.3

p.V354L

c.1060G>C

1 paper

NM_014503.3

p.V354L

c.1060G>T

1 paper

NM_014503.3

p.Q353H

c.1059A>C

1 paper

NM_014503.3

p.Q353H

c.1059A>T

1 paper

NM_014503.3

p.V344I

c.1030G>A

1 paper

NM_014503.3

p.P339A

c.1015C>G

1 paper

NM_014503.3

p.T325T

c.975A>C