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.E123D

c.369G>C

Surrounding Variants

1 paper

NM_014687.4

p.W125G

c.373T>G

1 paper

NM_014687.4

p.A122D

c.365C>A

1 paper

NM_014687.4

p.W125C

c.375G>C

1 paper

NM_014687.4

p.A116A

c.348C>A

1 paper

NM_014687.4

p.A116V

c.347C>T

4 papers

NM_014687.4

p.H133Y

c.397C>T

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.A113V

c.338C>T

1 paper

NM_014687.4

p.S112S

c.336T>C

1 paper

NM_014687.4

p.S111C

c.331A>T