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_001374461.1

p.N270K

c.810T>A

Surrounding Variants

3 papers

NM_001354526.1

p.N270T

c.809A>C

4 papers

NM_001374461.1

p.E269G

c.806A>G

6 papers

NM_001374461.1

p.L273F

c.817C>T

NM_130838.4

p.L293F

c.877C>T

5 papers

NM_001374461.1

p.L273R

c.818T>G

1 paper

NM_130839.5

p.H294Y

c.880C>T

5 papers

NM_001374461.1

p.H274N

c.820C>A

1 paper

NM_130839.5

p.S295insFs

c.884_885insA

1 paper

NM_130839.5

p.S295insFs

c.885dupT

2 papers

NM_130838.4

p.L263_F264del2

c.787_791del6

1 paper

NM_130839.5

p.E297K

c.889G>A

3 papers

NM_001354526.1

p.L263W

c.788T>G

3 papers

NM_001374461.1

p.L263M

c.787T>A