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.L502H

c.1505T>A

Surrounding Variants

5 papers

NM_001374461.1

p.L502P

c.1505T>C

1 paper

NM_130838.4

p.L502fs

c.1504_1505fs

1 paper

NM_130838.4

p.L502delFs

c.1505_1506delGA

1 paper

NM_130839.5

p.R521T

c.1562G>C

1 paper

NM_130839.5

p.R521G

c.1561A>G

1 paper

NM_130839.5

p.V524G

c.1571T>G

1 paper

NM_130838.4

p.V504del1

c.1510_1511delAAC

6 papers

NM_001374461.1

p.R506C

c.1516C>T

1 paper

NM_130839.5

p.D527N

c.1579G>A

1 paper

NM_000462.5

p.D530del1

c.1588_1590delGTC

1 paper

NM_130839.5

p.Q514K

c.1540C>A

1 paper

NM_130839.5

p.T505_V511del7

c.1513_1532del21