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.L835_K836ins7

c.2503_2507ins21

Surrounding Variants

1 paper

NM_130838.4

p.K834insFs

c.2500dupA

1 paper

NM_130838.4

p.K834fs

c.2500_2501fs

1 paper

NM_000462.5

p.P850_K857ins2

c.2550_2570dup21

1 paper

NM_130838.4

p.E833_K834insFs

c.2497_2500dup4

2 papers

NM_130838.4

p.K836fs

c.2506_2507fs

NM_130839.5

p.K856fs

c.2566_2567fs

2 papers

NM_130839.5

p.L855_K856insFs

c.2563_2566dup4

NM_130838.4

p.L835_K836insFs

c.2503_2506dup4

1 paper

NM_130839.5

p.E853G

c.2558A>G

2 papers

NM_130838.4

p.K836fs

c.2506_2507fs

NM_130839.5

p.K856fs

c.2566_2567fs

3 papers

NM_130838.4

p.L835_K836insFs

c.2503_2507dup5

NM_130839.5

p.L855_K856insFs

c.2563_2567dup5

1 paper

NM_130838.4

p.Y829_K836ins2

c.2487_2507dup21

2 papers

NM_130839.5

p.K856insFs

c.2567_2568insA

NM_130838.4

p.K836insFs

c.2507dupA

1 paper

NM_130839.5

p.K856insFs

c.2567_2568dupAA