Varaico: Literature-Extracted Genetic Variants

RRP9

49 papers

RefSeq Summary

This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processi...

Pfam Domains

WD40aa 136–174UCSCWD domain, G-beta repeat

WD40aa 192–227UCSCWD domain, G-beta repeat

WD40aa 231–269UCSCWD domain, G-beta repeat

WD40aa 273–311UCSCWD domain, G-beta repeat

WD40aa 314–351UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

ribosomal RNA processing 9, U3 small nucleolar RNA binding protein

HGNC Previous Symbol

RNU3IP2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 47 variants

4 papers

NM_004704.5

p.E70del1

c.208_210delCTC

3 papers

NM_004704.5

p.R8G

c.22C>G

3 papers

NM_004704.5

p.G24delFs

c.70delC

2 papers

NM_004704.5

p.S208_D210del3

c.622_629del9

2 papers

NM_004704.5

p.T238P

c.712A>C

1 paper

NM_004704.5

p.K9Q

c.25A>C

1 paper

NM_004704.5

p.R28G

c.82C>G

1 paper

NM_004704.5

p.G34R

c.100G>C

1 paper

NM_004704.5

p.G34R

c.100G>A

1 paper

NM_004704.5

p.K44N

c.132G>T

1 paper

NM_004704.5

p.K44N

c.132G>C

1 paper

NM_004704.5

p.M45I

c.135G>T