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.C60fs

c.178_179fs

Surrounding Variants

1 paper

NM_130838.4

p.C60R

c.178T>C

1 paper

NM_130838.4

p.L59_C60insFs

c.177_178insGA

1 paper

NM_130838.4

p.L59insFs

c.176_177insGA

1 paper

NM_130839.5

p.L79delFs

c.235delG

1 paper

NM_130838.4

p.L59_C60insA

c.175_179ins3

3 papers

NM_130839.5

p.A77V

c.230C>T

NM_000462.5

p.A80V

c.239C>T

1 paper

NM_130839.5

p.A77E

c.230C>A

1 paper

NM_130839.5

p.A77_K78insT

c.229_233ins3

1 paper

NM_000462.5

p.P87P

c.261C>A

1 paper

NM_130838.4

p.K67_G68insFs

c.199_202dup4

1 paper

NM_130838.4

p.G68insFs

c.202dupG

1 paper

NM_130838.4

p.G68fs

c.202_203fs