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.T35M

c.104C>T

Surrounding Variants

1 paper

NM_014687.4

p.T35A

c.103A>G

1 paper

NM_014687.4

p.T34M

c.101C>T

1 paper

NM_014687.4

p.K33R

c.98A>G

1 paper

NM_014687.4

p.G38insFs

c.112_113insA

1 paper

NM_014687.4

p.L32W

c.95T>G

1 paper

NM_014687.4

p.S41S

c.123A>G

1 paper

NM_014687.4

p.Q27E

c.79C>G

1 paper

NM_014687.4

p.W26*

c.78G>A

1 paper

NM_014687.4

p.W26L

c.77G>T

1 paper

NM_014687.4

p.W26*

c.77G>A

1 paper

NM_014687.4

p.P45L

c.134C>T

1 paper

NM_014687.4

p.P45R

c.134C>G