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_130839.5

p.Q341*

c.1021C>T

NM_130838.4

p.Q321*

c.961C>T

Surrounding Variants

1 paper

NM_130839.5

p.Q342*

c.1024C>T

1 paper

NM_130838.4

p.Q322fs

c.964_965fs

1 paper

NM_130838.4

p.Q322delFs

c.966delT

1 paper

NM_130838.4

p.T325fs

c.973_974fs

1 paper

NM_130839.5

p.R335insFs

c.1003_1004insT

1 paper

NM_130838.4

p.I324_Y326delFs

c.972_978del7

1 paper

NM_130838.4

p.T325_K327delFs

c.974_980del7

1 paper

NM_130839.5

p.R334W

c.1000C>T

1 paper

NM_130838.4

p.I313fs

c.937_938fs

1 paper

NM_130839.5

p.I333I

c.999T>A

1 paper

NM_130838.4

p.Q312delFs

c.936delC

6 papers

NM_001374461.1

p.I329T

c.986T>C