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_130839.5

p.Q36insFs

c.107dupA

Surrounding Variants

1 paper

NM_130839.5

p.L37L

c.109T>C

1 paper

NM_130839.5

p.L29_H35del7

c.85_104del21

1 paper

NM_130839.5

p.T38S

c.113C>G

1 paper

NM_130839.5

p.Y34delFs

c.101_102delGT

1 paper

NM_130839.5

p.E39K

c.115G>A

1 paper

NM_130839.5

p.E39D

c.117G>T

1 paper

NM_130839.5

p.G40C

c.118G>T

1 paper

NM_130838.4

p.Y13insFs

c.37dupT

1 paper

NM_130838.4

p.H8_R12delFs

c.22_35del14

6 papers

NM_001374461.1

p.G20V

c.59G>T

1 paper

NM_130838.4

p.G20insFs

c.59_60insA

1 paper

NM_130839.5

p.G40D

c.119G>A