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_130838.4

p.G565Splc

c.1693+37A>T

Surrounding Variants

1 paper

NM_130838.4

p.G565Splc

c.1693+32G>A

1 paper

NM_130838.4

p.G565Splc

c.1693+1G>A

4 papers

NM_130838.4

p.D563G

c.1688A>G

1 paper

NM_130839.5

p.P582_D583del1

c.1745_1747delCTG

1 paper

NM_130838.4

p.V556fs

c.1666_1667fs

1 paper

NM_130838.4

p.V556insFs

c.1666_1667ins5

1 paper

NM_000462.5

p.V579M

c.1735G>A

1 paper

NM_130838.4

p.V555_V556insFs

c.1665_1666ins5

1 paper

NM_130839.5

p.L574P

c.1721T>C

2 papers

NM_001354526.1

p.F551V

c.1651T>G

3 papers

NM_001374461.1

p.E550K

c.1648G>A

1 paper

NM_130838.4

p.S548fs

c.1642_1643fs