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.R132fs

c.394_395fs

Surrounding Variants

1 paper

NM_001374461.1

p.V133I

c.397G>A

3 papers

NM_001374461.1

p.V133G

c.398T>G

1 paper

NM_130839.5

p.V153D

c.458T>A

1 paper

NM_130838.4

p.R132_V133delFs

c.396_397delCT

1 paper

NM_130839.5

p.F154V

c.460T>G

1 paper

NM_130839.5

p.F154L

c.460T>C

1 paper

NM_130839.5

p.F154L

c.462T>G

1 paper

NM_130839.5

p.F154L

c.462T>A

7 papers

NM_001374461.1

p.I130T

c.389T>C

3 papers

NM_001354526.1

p.S135P

c.403T>C

1 paper

NM_000462.5

p.I153N

c.458T>A

1 paper

NM_130839.5

p.S155fs

c.463_464fs