Varaico: Literature-Extracted Genetic Variants

NOB1

43 papers

RefSeq Summary

In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S...

Pfam Domains

PIN_6aa 7–93UCSCPIN domain of ribonuclease

WRNPLPNIDaa 152–212UCSCPutative WW-binding domain and destruction box

Zn_ribbon_NOB1aa 260–332UCSCNin one binding (NOB1) Zn-ribbon like

Gene Aliases

HGNC Name

NIN1 (RPN12) binding protein 1 homolog

HGNC Previous Symbol

PSMD8BP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014062.3

p.E189_E190del1

c.567_569delTCC

Surrounding Variants

1 paper

NM_014062.3

p.E189_E190del2

c.565_569del6

1 paper

NM_014062.3

p.G206V

c.617G>T

1 paper

NM_014062.3

p.W208*

c.623G>A

1 paper

NM_014062.3

p.W208*

c.624G>A

3 papers

NM_014062.3

p.R231Q

c.692G>A

1 paper

NM_014062.3

p.S115L

c.344C>T

1 paper

NM_014062.3

p.V252V

c.756G>A

1 paper

NM_014062.3

p.A254V

c.761C>T

1 paper

NM_014062.3

p.R269C

c.805C>T

1 paper

NM_014062.3

p.E94E

c.282A>G

1 paper

NM_014062.3

p.Y91*

c.273C>A

1 paper

NM_014062.3

p.G74V

c.221G>T