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.G738R

c.2212G>A

Surrounding Variants

1 paper

NM_130838.4

p.G738R

c.2212G>C

5 papers

NM_001374461.1

p.G738E

c.2213G>A

1 paper

NM_130839.5

p.R760W

c.2278C>T

1 paper

NM_130838.4

p.R740Q

c.2219G>A

2 papers

NM_130839.5

p.R760R

c.2280G>C

1 paper

NM_130838.4

p.L734S

c.2201T>C

6 papers

NM_130839.5

p.K744_I752Fs

c.2230_2256delinsAFs

1 paper

NM_000462.5

p.I755T

c.2264T>C

1 paper

NM_130839.5

p.E751insFs

c.2251_2252ins5

1 paper

NM_130838.4

p.P729fs

c.2185_2186fs

1 paper

NM_130838.4

p.P729delFs

c.2186delG

1 paper

NM_130838.4

p.L726*

c.2177T>A