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.A378P

c.1132G>C

Surrounding Variants

1 paper

NM_130838.4

p.Y356fs

c.1066_1067fs

1 paper

NM_130838.4

p.Y356insFs

c.1067dupA

1 paper

NM_130838.4

p.N359fs

c.1075_1076fs

1 paper

NM_130838.4

p.N359insFs

c.1076dupA

1 paper

NM_130839.5

p.G383V

c.1148G>T

2 papers

NM_130839.5

p.G382_G383del2

c.1144_1148del6

2 papers

NM_001354526.1

p.C351Y

c.1052G>A

1 paper

NM_130839.5

p.V385_D386insFs

c.1155_1156insA

4 papers

NM_001374461.1

p.S349P

c.1045T>C

1 paper

NM_130839.5

p.N390D

c.1168A>G

1 paper

NM_130838.4

p.N370fs

c.1108_1109fs

2 papers

NM_130839.5

p.I365T

c.1094T>C