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.K549_K550del2

c.1645_1649del6

Surrounding Variants

2 papers

NM_130838.4

p.K530del1

c.1588_1590delCTT

NM_130839.5

p.K549_K550del1

c.1588_1589delCTT

1 paper

NM_130838.4

p.Y533*

c.1599T>G

1 paper

NM_130838.4

p.F536insFs

c.1608dupT

1 paper

NM_130838.4

p.N524fs

c.1570_1571fs

1 paper

NM_130838.4

p.N524insFs

c.1571dupA

1 paper

NM_130839.5

p.E543delFs

c.1628delT

2 papers

NM_130838.4

p.G538A

c.1613G>C

1 paper

NM_130839.5

p.E559*

c.1675G>T

3 papers

NM_001354526.1

p.E539K

c.1615G>A

3 papers

NM_130838.4

p.G538del1

c.1612_1613delTCC

1 paper

NM_130839.5

p.E559insFs

c.1676dupA

1 paper

NM_130839.5

p.I540_A541delFs

c.1618_1621del4