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

2 papers

NM_130839.5

p.Y270*

c.810T>A

NM_130838.4

p.Y250*

c.750T>A

Surrounding Variants

2 papers

NM_000462.5

p.H274N

c.820C>A

1 paper

NM_130839.5

p.E265_C266del2

c.793_797del6

1 paper

NM_000462.5

p.C269*

c.807T>A

1 paper

NM_130839.5

p.S275fs

c.823_824fs

1 paper

NM_130839.5

p.C266S

c.796T>A

1 paper

NM_130839.5

p.S275insFs

c.824_825insA

4 papers

NM_001374461.1

p.N243K

c.729C>G

4 papers

NM_001374461.1

p.N243K

c.729C>A

15 papers

NM_130839.5

p.P278H

c.833C>A

1 paper

NM_130839.5

p.N279K

c.837T>G

1 paper

NM_130839.5

p.N279K

c.837T>A

1 paper

NM_130839.5

p.N279delFs

c.835delT