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.Y328_N329delFs

c.983_987del5

Surrounding Variants

1 paper

NM_130838.4

p.Q312*

c.934C>T

1 paper

NM_130839.5

p.Y328fs

c.982_983fs

1 paper

NM_130839.5

p.K327_Y328insC

c.979_983ins3

1 paper

NM_130838.4

p.Q312delFs

c.936delC

1 paper

NM_130838.4

p.I313fs

c.937_938fs

1 paper

NM_130839.5

p.I333I

c.999T>A

1 paper

NM_130839.5

p.S326C

c.977C>G

1 paper

NM_130839.5

p.R334W

c.1000C>T

1 paper

NM_130838.4

p.W305*

c.914G>A

1 paper

NM_130839.5

p.R335insFs

c.1003_1004insT

1 paper

NM_130839.5

p.R323K

c.968G>A

1 paper

NM_130839.5

p.A317_L321del5

c.949_962del15