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.F49S

c.146T>C

Surrounding Variants

2 papers

NM_014503.3

p.I88T

c.263T>C

1 paper

NM_014503.3

p.D109N

c.325G>A

1 paper

NM_014503.3

p.R116*

c.346C>T

2 papers

NM_014503.3

p.H125R

c.374A>G

1 paper

NM_014503.3

p.L131delFs

c.392delT

1 paper

NM_014503.3

p.F129fs

c.385_386fs

1 paper

NM_014503.3

p.L131fs

c.391_392fs

2 papers

NM_014503.3

p.L131*

c.392T>A

1 paper

NM_014503.3

p.F149del1

c.445_446delTTC

1 paper

NM_014503.3

p.R161K

c.482G>A

1 paper

NM_014503.3

p.M167I

c.501G>A

1 paper

NM_014503.3

p.M167I

c.501G>C