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_001374461.1

p.C820S

c.2459G>C

NM_130839.5

p.C840S

c.2519G>C

Surrounding Variants

4 papers

NM_001374461.1

p.C820Y

c.2459G>A

3 papers

NM_001374461.1

p.C820S

c.2458T>A

NM_130839.5

p.C840S

c.2518T>A

1 paper

NM_130839.5

p.H838_N842insFs

c.2513_2525dup13

1 paper

NM_130838.4

p.S817fs

c.2449_2450fs

5 papers

NM_130839.5

p.T836_S837delFs

c.2507_2510del4

6 papers

NM_130839.5

p.V843insFs

c.2527_2528insA

2 papers

NM_130838.4

p.T816insFs

c.2448dupA

NM_130839.5

p.T836insFs

c.2508dupA

1 paper

NM_130839.5

p.S837fs

c.2509_2510fs

1 paper

NM_130839.5

p.T836insFs

c.2507_2508insAA

1 paper

NM_130838.4

p.L825*

c.2474T>A

1 paper

NM_001354506.2

p.P815R

c.2444C>G

4 papers

NM_001374461.1

p.P815H

c.2444C>A