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

1–12 of 908 variants

30 papers

NM_130839.5

p.T485A

c.1453A>G

15 papers

NM_130839.5

p.P278H

c.833C>A

11 papers

NM_130839.5

p.M60L

c.178A>T

7 papers

NM_130839.5

p.Q216Q

c.648G>A

7 papers

NM_130839.5

p.D563G

c.1688A>G

6 papers

NM_130839.5

p.S215_Q216insFs

c.645_646insA

6 papers

NM_130839.5

p.K744_I752Fs

c.2230_2256delinsAFs

6 papers

NM_130839.5

p.V843insFs

c.2527_2528insA

5 papers

NM_130838.4

p.C21Y

c.62G>A

5 papers

NM_130839.5

p.T836_S837delFs

c.2507_2510del4

4 papers

NM_130839.5

p.M1T

c.2T>C

4 papers

NM_130839.5

p.K6R

c.17A>G