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.A64_A65insG

c.190_194ins3

Surrounding Variants

1 paper

NM_130839.5

p.A64_A65delFs

c.192_193delCT

1 paper

NM_130839.5

p.A66ins5

c.196_197ins15

1 paper

NM_130839.5

p.D61delFs

c.183delA

1 paper

NM_130838.4

p.I47V

c.139A>G

11 papers

NM_130839.5

p.M60L

c.178A>T

3 papers

NM_001374461.1

p.R39H

c.116G>A

2 papers

NM_001374461.1

p.R39C

c.115C>T

1 paper

NM_130839.5

p.R59S

c.175C>A

1 paper

NM_130839.5

p.F57L

c.171T>A

1 paper

NM_130838.4

p.G22_P35del14

c.64_104del42

1 paper

NM_130839.5

p.P55S

c.163C>T

1 paper

NM_130839.5

p.P55T

c.163C>A