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.H133Y

c.397C>T

Surrounding Variants

1 paper

NM_014687.4

p.H133L

c.398A>T

1 paper

NM_014687.4

p.H133R

c.398A>G

1 paper

NM_014687.4

p.C134G

c.400T>G

1 paper

NM_014687.4

p.W125C

c.375G>C

2 papers

NM_014687.4

p.R140Q

c.419G>A

1 paper

NM_014687.4

p.W125G

c.373T>G

1 paper

NM_014687.4

p.P141A

c.421C>G

1 paper

NM_014687.4

p.E123D

c.369G>C

1 paper

NM_014687.4

p.L142_L143delFs

c.424_427del4

1 paper

NM_014687.4

p.A122D

c.365C>A

1 paper

NM_014687.4

p.G144R

c.430G>C

1 paper

NM_014687.4

p.G144R

c.430G>A