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.T856A

c.2566A>G

Surrounding Variants

1 paper

NM_014687.4

p.D854H

c.2560G>C

1 paper

NM_014687.4

p.R859S

c.2577G>T

1 paper

NM_014687.4

p.R859S

c.2577G>C

1 paper

NM_014687.4

p.R866Q

c.2597G>A

1 paper

NM_014687.4

p.A873fs

c.2617_2618fs

1 paper

NM_014687.4

p.G874E

c.2621G>A

2 papers

NM_014687.4

p.A875fs

c.2623_2624fs

1 paper

NM_014687.4

p.D837Y

c.2509G>T

1 paper

NM_014687.4

p.A875T

c.2623G>A

3 papers

NM_014687.4

p.A875fs

c.2623_2624fs

1 paper

NM_014687.4

p.F836S

c.2507T>C

5 papers

NM_014687.4

p.A875delFs

c.2624delG