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

1 paper

NM_004704.5

p.I225V

c.673A>G

Surrounding Variants

1 paper

NM_004704.5

p.K221R

c.662A>G

1 paper

NM_004704.5

p.H233Q

c.699C>G

1 paper

NM_004704.5

p.H233Q

c.699C>A

2 papers

NM_004704.5

p.T238P

c.712A>C

1 paper

NM_004704.5

p.R241Q

c.722G>A

2 papers

NM_004704.5

p.S208_D210del3

c.622_629del9

1 paper

NM_004704.5

p.S208S

c.624C>A

1 paper

NM_004704.5

p.C204F

c.611G>T

1 paper

NM_004704.5

p.V202V

c.606C>T

1 paper

NM_004704.5

p.H201Q

c.603C>A

1 paper

NM_004704.5

p.P195S

c.583C>T

1 paper

NM_004704.5

p.R179W

c.535C>T