Varaico: Literature-Extracted Genetic Variants

UBE3A

515 papers

RefSeq Summary

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. M...

Pfam Domains

AZULaa 29–83UCSCAmino-terminal Zinc-binding domain of ubiquitin ligase E3A

HECTaa 576–875UCSCHECT-domain (ubiquitin-transferase)

Gene Aliases

HGNC Name

ubiquitin protein ligase E3A

HGNC Previous Symbols

EPVE6AP; HPVE6A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001374461.1

p.N243K

c.729C>G

Surrounding Variants

4 papers

NM_001374461.1

p.N243K

c.729C>A

1 paper

NM_130839.5

p.C266S

c.796T>A

1 paper

NM_000462.5

p.C269*

c.807T>A

2 papers

NM_000462.5

p.L263M

c.787T>A

1 paper

NM_130838.4

p.Y239*

c.717T>A

1 paper

NM_130839.5

p.E265_C266del2

c.793_797del6

1 paper

NM_130838.4

p.V238fs

c.712_713fs

1 paper

NM_130838.4

p.L237insFs

c.711dupT

4 papers

NM_130838.4

p.L237P

c.710T>C

4 papers

NM_001374461.1

p.L237H

c.710T>A

2 papers

NM_130839.5

p.Y270*

c.810T>A

NM_130838.4

p.Y250*

c.750T>A

2 papers

NM_000462.5

p.H274N

c.820C>A