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_130838.4

p.K418_P419insG

c.1252_1256ins3

Surrounding Variants

1 paper

NM_130838.4

p.K418fs

c.1252_1253fs

1 paper

NM_130838.4

p.R417*

c.1249C>T

1 paper

NM_130839.5

p.L440F

c.1318C>T

1 paper

NM_001374461.1

p.D415E

c.1245T>G

1 paper

NM_001374461.1

p.D415E

c.1245T>A

1 paper

NM_130839.5

p.K438_L440del0

c.1314_1319del6

1 paper

NM_130839.5

p.T433_L434delFs

c.1299_1302del4

2 papers

NM_130839.5

p.K432_T433insFs

c.1296_1297insT

1 paper

NM_130839.5

p.K432R

c.1295A>G

1 paper

NM_130838.4

p.E424*

c.1270G>T

1 paper

NM_130839.5

p.G430D

c.1289G>A

1 paper

NM_130839.5

p.E428K

c.1282G>A