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.K308R

c.923A>G

Surrounding Variants

1 paper

NM_130838.4

p.K292fs

c.874_875fs

1 paper

NM_130839.5

p.L313I

c.937C>A

1 paper

NM_130839.5

p.P314L

c.941C>T

3 papers

NM_130839.5

p.P314H

c.941C>A

1 paper

NM_130839.5

p.A302delFs

c.904delC

1 paper

NM_130839.5

p.A302S

c.904G>T

1 paper

NM_130839.5

p.A302T

c.904G>A

1 paper

NM_130839.5

p.M301I

c.903G>A

1 paper

NM_130839.5

p.L315R

c.944T>G

1 paper

NM_130838.4

p.E277_E280del4

c.829_839del12

3 papers

NM_130839.5

p.L299_E300insFs

c.897_898insA

1 paper

NM_130838.4

p.K292_A296delFs

c.875_888del14