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.I460delFs

c.1379delA

Surrounding Variants

1 paper

NM_130838.4

p.I460fs

c.1378_1379fs

1 paper

NM_130838.4

p.M455_I460del0

c.1365_1379del15

1 paper

NM_130838.4

p.F459del1

c.1375_1376delAAA

3 papers

NM_001354526.1

p.P458L

c.1373C>T

1 paper

NM_130838.4

p.A463delFs

c.1387delC

1 paper

NM_130838.4

p.A463fs

c.1387_1388fs

1 paper

NM_130838.4

p.C457*

c.1371T>A

30 papers

NM_130839.5

p.T485A

c.1453A>G

1 paper

NM_000462.5

p.M478I

c.1434G>T

1 paper

NM_000462.5

p.M478I

c.1434G>C

1 paper

NM_000462.5

p.M478I

c.1434G>A

2 papers

NM_130839.5

p.M475V

c.1423A>G