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

2 papers

NM_130838.4

p.K836_E837delFs

c.2507_2510del4

NM_130839.5

p.K856_E857delFs

c.2567_2570del4

Surrounding Variants

1 paper

NM_130838.4

p.E837fs

c.2509_2510fs

1 paper

NM_130839.5

p.S850_E857ins2

c.2550_2570dup21

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

1 paper

NM_130838.4

p.K836delFs

c.2508delT

1 paper

NM_130839.5

p.E857fs

c.2569_2570fs

6 papers

NM_000462.5

p.K859delFs

c.2576_2577delTT

NM_130839.5

p.K856delFs

c.2567_2568delTT

NM_130838.4

p.K836delFs

c.2507_2508delTT

1 paper

NM_130838.4

p.L835_K836del0

c.2503_2508del6

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

1 paper

NM_130838.4

p.E837_R838delFs

c.2511_2514del4