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.K176R

c.527A>G

Surrounding Variants

2 papers

NM_130839.5

p.E174V

c.521A>T

1 paper

NM_130839.5

p.E174A

c.521A>C

1 paper

NM_130839.5

p.T171delFs

c.512delG

1 paper

NM_130839.5

p.Q169_T171delFs

c.505_511del7

1 paper

NM_130838.4

p.T151S

c.452C>G

1 paper

NM_130838.4

p.T151S

c.451A>T

1 paper

NM_130839.5

p.T171A

c.511A>G

1 paper

NM_130839.5

p.Q169*

c.505C>T

1 paper

NM_130839.5

p.E183_D184delFs

c.549_550delCT

1 paper

NM_130838.4

p.E167*

c.499G>T

1 paper

NM_130838.4

p.S143R

c.429C>G

1 paper

NM_130838.4

p.S143R

c.429C>A