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_130839.5

p.I365T

c.1094T>C

Surrounding Variants

4 papers

NM_001374461.1

p.S349P

c.1045T>C

2 papers

NM_130838.4

p.N340del1

c.1018_1019delATT

2 papers

NM_001354526.1

p.C351Y

c.1052G>A

1 paper

NM_130838.4

p.N337del1

c.1009_1010delATT

1 paper

NM_130838.4

p.R336*

c.1006C>T

1 paper

NM_130839.5

p.S355S

c.1065T>C

3 papers

NM_130838.4

p.S335T

c.1004G>C

1 paper

NM_130838.4

p.Y356fs

c.1066_1067fs

1 paper

NM_130838.4

p.Y356insFs

c.1067dupA

1 paper

NM_130839.5

p.A378P

c.1132G>C

1 paper

NM_130839.5

p.E352K

c.1054G>A

1 paper

NM_130838.4

p.N359fs

c.1075_1076fs