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

7 papers

NM_130839.5

p.A198T

c.592G>A

NM_001374461.1

p.A178T

c.532G>A

Surrounding Variants

1 paper

NM_130838.4

p.A178S

c.532G>T

1 paper

NM_130838.4

p.S176_A177insGA

c.526_530ins6

1 paper

NM_130839.5

p.S196_A197ins15

c.586_590ins45

1 paper

NM_130839.5

p.C195F

c.584G>T

1 paper

NM_130839.5

p.C195Y

c.584G>A

1 paper

NM_130839.5

p.C195fs

c.583_584fs

1 paper

NM_130838.4

p.A174P

c.520G>C

1 paper

NM_130839.5

p.K192_A193del2

c.574_578del6

1 paper

NM_130839.5

p.A193G

c.578C>G

1 paper

NM_130838.4

p.D183delFs

c.547delC

1 paper

NM_130838.4

p.D183fs

c.547_548fs

1 paper

NM_130839.5

p.S204L

c.611C>T