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.G392R

c.1174G>A

Surrounding Variants

1 paper

NM_014687.4

p.G392R

c.1174G>C

1 paper

NM_014687.4

p.G392E

c.1175G>A

1 paper

NM_014687.4

p.R386K

c.1157G>A

1 paper

NM_014687.4

p.V397_T398insFs

c.1191_1192insG

1 paper

NM_014687.4

p.L384delFs

c.1152delG

1 paper

NM_014687.4

p.V383_L384insFs

c.1149_1150insA

1 paper

NM_014687.4

p.H405R

c.1214A>G

1 paper

NM_014687.4

p.S408P

c.1222T>C

1 paper

NM_014687.4

p.H405_S408del0

c.1214_1222del9

2 papers

NM_014687.4

p.G375C

c.1123G>T

1 paper

NM_014687.4

p.E373G

c.1118A>G

1 paper

NM_014687.4

p.T412T

c.1236C>T