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.Q360*

c.1078C>T

Surrounding Variants

1 paper

NM_014687.4

p.A366S

c.1096G>T

1 paper

NM_014687.4

p.S368insFs

c.1102_1103insC

1 paper

NM_014687.4

p.S350N

c.1049G>A

1 paper

NM_014687.4

p.E373G

c.1118A>G

2 papers

NM_014687.4

p.G375C

c.1123G>T

1 paper

NM_014687.4

p.T336T

c.1008T>C

1 paper

NM_014687.4

p.V383_L384insFs

c.1149_1150insA

1 paper

NM_014687.4

p.R335W

c.1003C>T

1 paper

NM_014687.4

p.L384delFs

c.1152delG

1 paper

NM_014687.4

p.G334S

c.1000G>A

1 paper

NM_014687.4

p.R386K

c.1157G>A

2 papers

NM_014687.4

p.R333*

c.997C>T