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.Q560_G561delFs

c.1680_1683del4

Surrounding Variants

1 paper

NM_130839.5

p.G561fs

c.1681_1682fs

2 papers

NM_001354526.1

p.G541E

c.1622G>A

7 papers

NM_130839.5

p.D563G

c.1688A>G

1 paper

NM_130838.4

p.D543A

c.1628A>C

1 paper

NM_000462.5

p.E567K

c.1699G>A

1 paper

NM_130839.5

p.E559insFs

c.1676dupA

1 paper

NM_130838.4

p.D543del1

c.1627_1628delATC

3 papers

NM_130838.4

p.G538del1

c.1612_1613delTCC

1 paper

NM_130839.5

p.E559*

c.1675G>T

4 papers

NM_001374461.1

p.G545R

c.1633G>C

4 papers

NM_001374461.1

p.G545R

c.1633G>A

3 papers

NM_001354526.1

p.E539K

c.1615G>A