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.R2W

c.4C>T

Surrounding Variants

1 paper

NM_014687.4

p.R2G

c.4C>G

1 paper

NM_014687.4

p.R2R

c.4C>A

1 paper

NM_014687.4

p.M1I

c.3G>T

1 paper

NM_014687.4

p.M1insFs

c.1_2dupAT

1 paper

NM_014687.4

p.R2P

c.5G>C

1 paper

NM_014687.4

p.M1I

c.3G>C

3 papers

NM_014687.4

p.M1I

c.3G>A

1 paper

NM_014687.4

p.R2Q

c.5G>A

1 paper

NM_014687.4

p.M1R

c.2T>G

2 papers

NM_014687.4

p.M1T

c.2T>C

1 paper

NM_014687.4

p.M1K

c.2T>A

1 paper

NM_014687.4

p.P3A

c.7C>G