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

4 papers

NM_130839.5

p.K6R

c.17A>G

Surrounding Variants

1 paper

NM_130839.5

p.T3K

c.8C>A

1 paper

NM_130839.5

p.A2A

c.6C>A

1 paper

NM_130839.5

p.A2V

c.5C>T

1 paper

NM_130839.5

p.M1insFs

c.3dupG

3 papers

NM_130839.5

p.M1insFs

c.2dupT

1 paper

NM_130839.5

p.M1I

c.3G>C

1 paper

NM_130839.5

p.M1insFs

c.2_3insG

4 papers

NM_130839.5

p.M1T

c.2T>C

1 paper

NM_130839.5

p.M1K

c.2T>A

1 paper

NM_130839.5

p.M1fs

c.1_2fs

1 paper

NM_130839.5

p.M1V

c.1A>G

1 paper

NM_130839.5

p.M1insFs

c.1_2insC