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.K913Splc

c.2739-1738T>A

Surrounding Variants

1 paper

NM_014503.3

p.K913R

c.2738A>G

1 paper

NM_014503.3

p.E882D

c.2646A>C

1 paper

NM_014503.3

p.E882D

c.2646A>T

1 paper

NM_014503.3

p.R868R

c.2604G>A

1 paper

NM_014503.3

p.P863A

c.2587C>G

1 paper

NM_014503.3

p.K913Splc

c.2739-108T>C

1 paper

NM_014503.3

p.E939K

c.2815G>A

1 paper

NM_014503.3

p.M961I

c.2883G>A

1 paper

NM_014503.3

p.M961I

c.2883G>C

1 paper

NM_014503.3

p.M961I

c.2883G>T

1 paper

NM_014503.3

p.Y963*

c.2889T>A

1 paper

NM_014503.3

p.Y963*

c.2889T>G