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.H28insFs

c.83dupA

Surrounding Variants

1 paper

NM_130839.5

p.K27N

c.81G>C

3 papers

NM_130839.5

p.K27R

c.80A>G

1 paper

NM_130839.5

p.K27*

c.79A>T

1 paper

NM_130839.5

p.A26A

c.78A>C

1 paper

NM_130839.5

p.E31K

c.91G>A

1 paper

NM_130839.5

p.A26insFs

c.77_78insT

2 papers

NM_130839.5

p.A26P

c.76G>C

1 paper

NM_130839.5

p.E31A

c.92A>C

1 paper

NM_130838.4

p.H8_R12delFs

c.22_35del14

1 paper

NM_130838.4

p.Y13insFs

c.37dupT

1 paper

NM_130839.5

p.R23insFs

c.68dupG

1 paper

NM_130839.5

p.R23*

c.67C>T