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.S1961S

c.5883T>C

Surrounding Variants

1 paper

NM_014503.3

p.Q1948H

c.5844G>C

1 paper

NM_014503.3

p.Q1948H

c.5844G>T

1 paper

NM_014503.3

p.K1944R

c.5831A>G

1 paper

NM_014503.3

p.H1934R

c.5801A>G

2 papers

NM_014503.3

p.T1992M

c.5975C>T

1 paper

NM_014503.3

p.P2051fs

c.6151_6152fs

1 paper

NM_014503.3

p.P2062R

c.6185C>G

1 paper

NM_014503.3

p.R2067Q

c.6200G>A

1 paper

NM_014503.3

p.T2078delFs

c.6232delA

1 paper

NM_014503.3

p.V2115V

c.6345G>A

1 paper

NM_014503.3

p.P2144L

c.6431C>T

1 paper

NM_014503.3

p.R2173G

c.6517A>G