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.A6P

c.16G>C

Surrounding Variants

1 paper

NM_014687.4

p.A6T

c.16G>A

1 paper

NM_014687.4

p.A6V

c.17C>T

1 paper

NM_014687.4

p.G5C

c.13G>T

1 paper

NM_014687.4

p.G5insFs

c.13_14insA

2 papers

NM_014687.4

p.E4D

c.12G>C

1 paper

NM_014687.4

p.G7E

c.20G>A

1 paper

NM_014687.4

p.E4E

c.12G>A

1 paper

NM_014687.4

p.G7G

c.21A>G

1 paper

NM_014687.4

p.E4K

c.10G>A

1 paper

NM_014687.4

p.M8T

c.23T>C

1 paper

NM_014687.4

p.P3A

c.7C>G

1 paper

NM_014687.4

p.R2P

c.5G>C