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

4 papers

NM_014687.4

p.A943G

c.2828C>G

Surrounding Variants

1 paper

NM_014687.4

p.R938_R939insT

c.2812_2816ins3

1 paper

NM_014687.4

p.L935R

c.2804T>G

1 paper

NM_014687.4

p.L935P

c.2804T>C

1 paper

NM_014687.4

p.S952S

c.2856A>G

2 papers

NM_014687.4

p.P930L

c.2789C>T

1 paper

NM_014687.4

p.P958S

c.2872C>T

1 paper

NM_014687.4

p.S926C

c.2777C>G

1 paper

NM_014687.4

p.A961V

c.2882C>T

1 paper

NM_014687.4

p.C923G

c.2767T>G

1 paper

NM_014687.4

p.A966S

c.2896G>T

1 paper

NM_014687.4

p.H920L

c.2759A>T

1 paper

NM_014687.4

p.C918Y

c.2753G>A