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.N390D

c.1168A>G

Surrounding Variants

1 paper

NM_130838.4

p.N370fs

c.1108_1109fs

1 paper

NM_130838.4

p.E372*

c.1114G>T

1 paper

NM_130838.4

p.N370_E371delFs

c.1110_1113del4

1 paper

NM_130839.5

p.N388_E391delFs

c.1162_1172del11

1 paper

NM_130839.5

p.D393N

c.1177G>A

1 paper

NM_130838.4

p.D373D

c.1119T>C

1 paper

NM_130839.5

p.V385_D386insFs

c.1155_1156insA

1 paper

NM_130838.4

p.E375E

c.1125A>G

2 papers

NM_130839.5

p.G382_G383del2

c.1144_1148del6

1 paper

NM_130839.5

p.G383V

c.1148G>T

1 paper

NM_130839.5

p.P399L

c.1196C>T

1 paper

NM_130839.5

p.V385_P399delFs

c.1153_1196del44