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

3 papers

NM_001354526.1

p.L435P

c.1304T>C

Surrounding Variants

1 paper

NM_130838.4

p.E429*

c.1285G>T

1 paper

NM_130839.5

p.F446_N448delFs

c.1337_1344del8

1 paper

NM_130839.5

p.F464L

c.1392C>A

1 paper

NM_130838.4

p.E424*

c.1270G>T

1 paper

NM_130838.4

p.V446fs

c.1336_1337fs

1 paper

NM_130839.5

p.T468T

c.1404A>C

1 paper

NM_130838.4

p.V446_T448delFs

c.1337_1344del8

1 paper

NM_130839.5

p.K438_L440del0

c.1314_1319del6

1 paper

NM_130838.4

p.N450fs

c.1348_1349fs

1 paper

NM_130838.4

p.E449_N450delFs

c.1347_1348delTC

1 paper

NM_130839.5

p.L440F

c.1318C>T

1 paper

NM_130838.4

p.N450fs

c.1348_1349fs