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

2 papers

NM_130838.4

p.Y479*

c.1437C>A

NM_130839.5

p.Y499*

c.1497C>A

Surrounding Variants

2 papers

NM_130838.4

p.Y479*

c.1437C>G

NM_130839.5

p.Y499*

c.1497C>G

5 papers

NM_001374461.1

p.M478I

c.1434G>T

5 papers

NM_001374461.1

p.M478I

c.1434G>C

5 papers

NM_001374461.1

p.M478I

c.1434G>A

2 papers

NM_001374461.1

p.M478V

c.1432A>G

5 papers

NM_001374461.1

p.R477P

c.1430G>C

3 papers

NM_000462.5

p.R505*

c.1513C>T

NM_130838.4

p.R482*

c.1444C>T

5 papers

NM_001374461.1

p.R482P

c.1445G>C

1 paper

NM_130838.4

p.R483*

c.1447A>T

1 paper

NM_130839.5

p.I504T

c.1511T>C

1 paper

NM_130839.5

p.R503delFs

c.1509delT

1 paper

NM_130839.5

p.R495*

c.1483A>T