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.D218N

c.652G>A

Surrounding Variants

7 papers

NM_130839.5

p.Q216Q

c.648G>A

1 paper

NM_000462.5

p.N222K

c.666C>A

2 papers

NM_130839.5

p.Q216R

c.647A>G

1 paper

NM_001374461.1

p.Q196P

c.587A>C

6 papers

NM_130839.5

p.S215_Q216insFs

c.645_646insA

1 paper

NM_130838.4

p.S194fs

c.580_581fs

1 paper

NM_130838.4

p.S194I

c.581G>T

1 paper

NM_130839.5

p.L221L

c.663G>A

1 paper

NM_130838.4

p.D193fs

c.577_578fs

1 paper

NM_130838.4

p.G192_D193insFs

c.575_578dup4

1 paper

NM_130838.4

p.L204S

c.611T>C

1 paper

NM_130839.5

p.G225G

c.675C>T