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

2 papers

NM_014687.4

p.W48R

c.142T>A

Surrounding Variants

1 paper

NM_014687.4

p.W48*

c.144G>A

1 paper

NM_014687.4

p.S49P

c.145T>C

1 paper

NM_014687.4

p.P45_N46insFs

c.135_136insC

1 paper

NM_014687.4

p.P45L

c.134C>T

1 paper

NM_014687.4

p.P45R

c.134C>G

1 paper

NM_014687.4

p.G52D

c.155G>A

2 papers

NM_014687.4

p.G52G

c.156T>C

1 paper

NM_014687.4

p.G53D

c.158G>A

1 paper

NM_014687.4

p.S41S

c.123A>G

1 paper

NM_014687.4

p.L57R

c.170T>G

1 paper

NM_014687.4

p.G38insFs

c.112_113insA

1 paper

NM_014687.4

p.T35M

c.104C>T