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

1–12 of 336 variants

5 papers

NM_014687.4

p.A875delFs

c.2624delG

4 papers

NM_014687.4

p.G13D

c.38G>A

4 papers

NM_014687.4

p.H133Y

c.397C>T

4 papers

NM_014687.4

p.A943G

c.2828C>G

3 papers

NM_014687.4

p.M1I

c.3G>A

3 papers

NM_014687.4

p.G12S

c.34G>A

3 papers

NM_014687.4

p.G68R

c.202G>A

3 papers

NM_014687.4

p.L200L

c.598C>T

3 papers

NM_014687.4

p.D313Y

c.937G>T

3 papers

NM_014687.4

p.A875fs

c.2623_2624fs

2 papers

NM_014687.4

p.M1T

c.2T>C

2 papers

NM_014687.4

p.E4D

c.12G>C