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.G545_G546insFs

c.1634_1637dup4

Surrounding Variants

2 papers

NM_001354526.1

p.G546S

c.1636G>A

1 paper

NM_130838.4

p.V547fs

c.1639_1640fs

4 papers

NM_001374461.1

p.G545R

c.1633G>C

4 papers

NM_001374461.1

p.G545R

c.1633G>A

1 paper

NM_130838.4

p.S548insFs

c.1642dupT

1 paper

NM_130838.4

p.V547_S548insFs

c.1639_1642dup4

1 paper

NM_130838.4

p.D543del1

c.1627_1628delATC

1 paper

NM_130838.4

p.S548fs

c.1642_1643fs

1 paper

NM_000462.5

p.E567K

c.1699G>A

3 papers

NM_001374461.1

p.E550K

c.1648G>A

7 papers

NM_130839.5

p.D563G

c.1688A>G

1 paper

NM_130838.4

p.D543A

c.1628A>C