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.D1447N

c.4339G>A

Surrounding Variants

1 paper

NM_014503.3

p.F1453F

c.4359C>T

1 paper

NM_014503.3

p.M1475I

c.4425G>A

1 paper

NM_014503.3

p.M1475I

c.4425G>C

1 paper

NM_014503.3

p.M1475I

c.4425G>T

1 paper

NM_014503.3

p.E1415E

c.4245G>A

1 paper

NM_014503.3

p.T1412T

c.4236G>A

1 paper

NM_014503.3

p.R1520H

c.4559G>A

1 paper

NM_014503.3

p.L1526F

c.4578G>C

1 paper

NM_014503.3

p.L1526F

c.4578G>T

1 paper

NM_014503.3

p.R1527G

c.4579A>G

1 paper

NM_014503.3

p.F1359F

c.4077C>T

1 paper

NM_014503.3

p.F1359I

c.4075T>A