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.S830fs

c.2488_2489fs

Surrounding Variants

1 paper

NM_130838.4

p.S830*

c.2489C>G

1 paper

NM_130839.5

p.S850ins1

c.2549_2550insTTC

1 paper

NM_130838.4

p.Y829_S830insFs

c.2487_2490dup4

1 paper

NM_130838.4

p.S831fs

c.2491_2492fs

2 papers

NM_130839.5

p.E848_Y849insFs

c.2544_2545insA

1 paper

NM_130839.5

p.E853G

c.2558A>G

1 paper

NM_130838.4

p.P827fs

c.2479_2480fs

6 papers

NM_001374461.1

p.P827L

c.2480C>T

NM_130838.4

p.P847L

c.2540C>T

2 papers

NM_001354526.1

p.P827S

c.2479C>T

1 paper

NM_130838.4

p.L826delFs

c.2478delA

1 paper

NM_130838.4

p.E833_K834insFs

c.2497_2500dup4

1 paper

NM_130838.4

p.K834fs

c.2500_2501fs