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

2 papers

NM_014503.3

p.L1882Q

c.5645T>A

Surrounding Variants

1 paper

NM_014503.3

p.Q1897L

c.5690A>T

1 paper

NM_014503.3

p.R1862I

c.5585G>T

1 paper

NM_014503.3

p.C1851fs

c.5551_5552fs

1 paper

NM_014503.3

p.S1833S

c.5499C>T

1 paper

NM_014503.3

p.V1819I

c.5455G>A

2 papers

NM_014503.3

p.E1817K

c.5449G>A

1 paper

NM_014503.3

p.A1796E

c.5387C>A

1 paper

NM_014503.3

p.R1790M

c.5369G>T

1 paper

NM_014503.3

p.T1784A

c.5350A>G

1 paper

NM_014503.3

p.E1717K

c.5149G>A

1 paper

NM_014503.3

p.A1651E

c.4952C>A

1 paper

NM_014503.3

p.T1633A

c.4897A>G