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

3 papers

NM_014687.4

p.G12S

c.34G>A

Surrounding Variants

2 papers

NM_014687.4

p.G12C

c.34G>T

1 paper

NM_014687.4

p.G12R

c.34G>C

1 paper

NM_014687.4

p.G12V

c.35G>T

1 paper

NM_014687.4

p.G12A

c.35G>C

2 papers

NM_014687.4

p.G12D

c.35G>A

1 paper

NM_014687.4

p.G12delFs

c.34delC

1 paper

NM_014687.4

p.G13_E14insA

c.37_41ins3

1 paper

NM_014687.4

p.G13R

c.37G>C

1 paper

NM_014687.4

p.G13S

c.37G>A

4 papers

NM_014687.4

p.G13D

c.38G>A

1 paper

NM_014687.4

p.E14E

c.42G>A

1 paper

NM_014687.4

p.E14delFs

c.42delC