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.V239delFs

c.717delG

Surrounding Variants

1 paper

NM_130839.5

p.Y240D

c.718T>G

1 paper

NM_130839.5

p.R242*

c.724A>T

1 paper

NM_130839.5

p.R242delFs

c.726delT

1 paper

NM_130839.5

p.L243_L244insFs

c.729_730insA

1 paper

NM_130839.5

p.A235V

c.704C>T

4 papers

NM_130838.4

p.D212V

c.635A>T

1 paper

NM_130838.4

p.E230*

c.688G>T

1 paper

NM_130839.5

p.T251I

c.752C>T

1 paper

NM_130839.5

p.D228Y

c.682G>T

1 paper

NM_130839.5

p.A252A

c.756C>G

1 paper

NM_130839.5

p.P226L

c.677C>T

1 paper

NM_130839.5

p.G225G

c.675C>T