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.E19Q

c.55G>C

Surrounding Variants

1 paper

NM_014687.4

p.E19*

c.55G>T

1 paper

NM_014687.4

p.E19D

c.57G>T

1 paper

NM_014687.4

p.L17delFs

c.51delC

1 paper

NM_014687.4

p.R16H

c.47G>A

1 paper

NM_014687.4

p.R22ins5

c.64_65ins15

1 paper

NM_014687.4

p.S21_R22ins5

c.63_64ins15

1 paper

NM_014687.4

p.E14delFs

c.42delC

1 paper

NM_014687.4

p.E14E

c.42G>A

4 papers

NM_014687.4

p.G13D

c.38G>A

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