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_130839.5

p.S90S

c.270C>T

Surrounding Variants

2 papers

NM_130839.5

p.S90insFs

c.268dupA

1 paper

NM_130839.5

p.A89delFs

c.265_266delGC

1 paper

NM_130838.4

p.G68insFs

c.202dupG

1 paper

NM_130838.4

p.G68fs

c.202_203fs

1 paper

NM_130838.4

p.K67_G68insFs

c.199_202dup4

1 paper

NM_130838.4

p.Y73*

c.219C>A

1 paper

NM_130838.4

p.E75Q

c.223G>C

1 paper

NM_000462.5

p.P87P

c.261C>A

1 paper

NM_130839.5

p.S97fs

c.289_290fs

1 paper

NM_130839.5

p.S97L

c.290C>T

1 paper

NM_130839.5

p.S97*

c.290C>A

1 paper

NM_130838.4

p.A80V

c.239C>T