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.K292_A296delFs

c.875_888del14

Surrounding Variants

1 paper

NM_130839.5

p.L315R

c.944T>G

1 paper

NM_130839.5

p.G319E

c.956G>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.L313I

c.937C>A

1 paper

NM_130838.4

p.K292fs

c.874_875fs

1 paper

NM_130839.5

p.A317_L321del5

c.949_962del15

1 paper

NM_130839.5

p.R323K

c.968G>A

1 paper

NM_130838.4

p.W305*

c.914G>A

1 paper

NM_130839.5

p.K308R

c.923A>G

1 paper

NM_130839.5

p.S326C

c.977C>G

1 paper

NM_130839.5

p.K327_Y328insC

c.979_983ins3