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

1 paper

NM_014687.4

p.R262*

c.784A>T

Surrounding Variants

1 paper

NM_014687.4

p.E260A

c.779A>C

1 paper

NM_014687.4

p.S266insFs

c.796_797ins4

1 paper

NM_014687.4

p.G253insFs

c.757_758ins4

1 paper

NM_014687.4

p.P250P

c.750A>T

1 paper

NM_014687.4

p.P277delFs

c.830delG

1 paper

NM_014687.4

p.R244*

c.730A>T

1 paper

NM_014687.4

p.N292Y

c.874A>T

1 paper

NM_014687.4

p.E293K

c.877G>A

1 paper

NM_014687.4

p.S295R

c.885C>A

2 papers

NM_014687.4

p.T300A

c.898A>G

1 paper

NM_014687.4

p.A305delFs

c.914delG

1 paper

NM_014687.4

p.W307insFs

c.920_921ins4