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

Selected Variant

3 papers

NM_004704.5

p.R8G

c.22C>G

Surrounding Variants

1 paper

NM_004704.5

p.K9Q

c.25A>C

3 papers

NM_004704.5

p.G24delFs

c.70delC

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

1 paper

NM_004704.5

p.M45I

c.135G>C

1 paper

NM_004704.5

p.M45I

c.135G>A

4 papers

NM_004704.5

p.E70del1

c.208_210delCTC

1 paper

NM_004704.5

p.R91C

c.271C>T