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.L1148insFs

c.3443_3444insC

Surrounding Variants

1 paper

NM_014503.3

p.L1154V

c.3460C>G

1 paper

NM_014503.3

p.I1156I

c.3468C>T

1 paper

NM_014503.3

p.A1213T

c.3637G>A

1 paper

NM_014503.3

p.R1214*

c.3640A>T

1 paper

NM_014503.3

p.D1135H

c.3403G>C

1 paper

NM_014503.3

p.T1129T

c.3387C>T

1 paper

NM_014503.3

p.L1123M

c.3367C>A

1 paper

NM_014503.3

p.E1102G

c.3305A>G

1 paper

NM_014503.3

p.L1218F

c.3654G>C

1 paper

NM_014503.3

p.L1218F

c.3654G>T

1 paper

NM_014503.3

p.A1241A

c.3723G>A

1 paper

NM_014503.3

p.T1268I

c.3803C>T