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.R722H

c.2165G>A

Surrounding Variants

1 paper

NM_014503.3

p.P720L

c.2159C>T

1 paper

NM_014503.3

p.A710fs

c.2128_2129fs

1 paper

NM_014503.3

p.L699F

c.2097G>C

1 paper

NM_014503.3

p.L699F

c.2097G>T

2 papers

NM_014503.3

p.R693K

c.2078G>A

1 paper

NM_014503.3

p.R680H

c.2039G>A

1 paper

NM_014503.3

p.E749K

c.2245G>A

1 paper

NM_014503.3

p.Q754Q

c.2262A>G

1 paper

NM_014503.3

p.L800F

c.2398C>T

1 paper

NM_014503.3

p.E665_D666Splc

c.1995+2T>C

1 paper

NM_014503.3

p.L648F

c.1944G>C

1 paper

NM_014503.3

p.L648F

c.1944G>T