Varaico: Literature-Extracted Genetic Variants

RUBCN

639 papers

RefSeq Summary

The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain ...

Pfam Domains

RUNaa 56–182UCSCRUN domain

RUBC_PIKBDaa 501–737UCSCRubicon, PI3K-binding domain

RH_domaa 776–976UCSCRubicon Homology Domain

Gene Aliases

HGNC Name

rubicon autophagy regulator

HGNC Previous Symbol

KIAA0226

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_014687.4

p.L200L

c.598C>T

Surrounding Variants

1 paper

NM_014687.4

p.S197N

c.590G>A

1 paper

NM_014687.4

p.E196*

c.586G>T

1 paper

NM_014687.4

p.E196K

c.586G>A

1 paper

NM_014687.4

p.A192T

c.574G>A

2 papers

NM_014687.4

p.P211S

c.631C>T

1 paper

NM_014687.4

p.Y215C

c.644A>G

1 paper

NM_014687.4

p.P217L

c.650C>T

1 paper

NM_014687.4

p.N219delFs

c.657delG

1 paper

NM_014687.4

p.S220T

c.659G>C

1 paper

NM_014687.4

p.A222V

c.665C>T

1 paper

NM_014687.4

p.H224P

c.671A>C

1 paper

NM_014687.4

p.Y226F

c.677A>T