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.L140fs

c.418_419fs

Surrounding Variants

1 paper

NM_130838.4

p.L140insFs

c.419_420insG

1 paper

NM_130839.5

p.L160S

c.479T>C

1 paper

NM_130838.4

p.L140insFs

c.418_419insG

1 paper

NM_130839.5

p.V161E

c.482T>A

1 paper

NM_130838.4

p.S143R

c.427A>C

1 paper

NM_130838.4

p.S143R

c.429C>G

1 paper

NM_130838.4

p.S143R

c.429C>A

1 paper

NM_130838.4

p.S135fs

c.403_404fs

2 papers

NM_130838.4

p.S135insFs

c.403dupT

NM_130839.5

p.S155insFs

c.463dupT

3 papers

NM_001354526.1

p.S135P

c.403T>C

1 paper

NM_130839.5

p.S155fs

c.463_464fs

1 paper

NM_130839.5

p.F154L

c.462T>G