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

1 paper

NM_130839.5

p.N48K

c.144T>G

Surrounding Variants

1 paper

NM_130839.5

p.N48K

c.144T>A

1 paper

NM_130839.5

p.T47insFs

c.139dupA

1 paper

NM_130839.5

p.T47fs

c.139_140fs

1 paper

NM_000462.5

p.C49*

c.147C>A

1 paper

NM_130839.5

p.A52G

c.155C>G

1 paper

NM_001374461.1

p.S33T

c.97T>A

1 paper

NM_130839.5

p.E44A

c.131A>C

1 paper

NM_130838.4

p.S33delFs

c.99delG

1 paper

NM_130838.4

p.C34fs

c.100_101fs

1 paper

NM_130839.5

p.P55S

c.163C>T

1 paper

NM_130839.5

p.P55T

c.163C>A

1 paper

NM_130839.5

p.G42R

c.124G>A