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.F293L

c.879T>G

Surrounding Variants

1 paper

NM_014503.3

p.F293L

c.879T>A

1 paper

NM_014503.3

p.F293L

c.877T>C

1 paper

NM_014503.3

p.R252*

c.754C>T

1 paper

NM_014503.3

p.A246E

c.737C>A

1 paper

NM_014503.3

p.Q245_A246Splc

c.736-1G>A

1 paper

NM_014503.3

p.Q245_A246Splc

c.735+8A>C

1 paper

NM_014503.3

p.G223G

c.669T>C

1 paper

NM_014503.3

p.F211V

c.631T>G

1 paper

NM_014503.3

p.A205E

c.614C>A

2 papers

NM_014503.3

p.S299L

c.896C>T

1 paper

NM_014503.3

p.H304Y

c.910C>T

1 paper

NM_014503.3

p.E314G

c.941A>G