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.K109_M110insFs

c.327_328insC

Surrounding Variants

1 paper

NM_130839.5

p.M110insFs

c.328_329insC

1 paper

NM_130839.5

p.K109*

c.325A>T

2 papers

NM_130838.4

p.I88delFs

c.263_264delTA

1 paper

NM_130838.4

p.M90fs

c.268_269fs

2 papers

NM_130838.4

p.I88fs

c.262_263fs

1 paper

NM_130838.4

p.M90delFs

c.270delC

1 paper

NM_130839.5

p.S106_E107delFs

c.317_321del5

1 paper

NM_130839.5

p.N111K

c.333C>A

1 paper

NM_000462.5

p.E110delFs

c.328delC

1 paper

NM_130839.5

p.E107K

c.319G>A

1 paper

NM_130838.4

p.K92insFs

c.275dupA

1 paper

NM_130838.4

p.K93fs

c.277_278fs