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.L852fs

c.2554_2555fs

Surrounding Variants

2 papers

NM_130838.4

p.*853L

c.2558A>T

NM_130839.5

p.*873L

c.2618A>T

3 papers

NM_130838.4

p.*853*

c.2558A>G

NM_130839.5

p.*873*

c.2618A>G

1 paper

NM_130838.4

p.*853fs

c.2557_2558fs

2 papers

NM_130838.4

p.G850D

c.2549G>A

NM_130839.5

p.G870D

c.2609G>A

1 paper

NM_130838.4

p.A846fs

c.2536_2537fs

1 paper

NM_130838.4

p.A842_T844delins

c.2524_2530delinsAGATGTT

1 paper

NM_130838.4

p.K841fs

c.2521_2522fs

1 paper

NM_130838.4

p.K841insFs

c.2521dupA

2 papers

NM_130839.5

p.L859_L860delFs

c.2576_2579del4

2 papers

NM_130839.5

p.R858_L859insFs

c.2572_2576dup5

1 paper

NM_130838.4

p.E837_R838delFs

c.2511_2514del4

1 paper

NM_130838.4

p.E837fs

c.2509_2510fs