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.N524insFs

c.1571dupA

Surrounding Variants

1 paper

NM_130838.4

p.N524fs

c.1570_1571fs

1 paper

NM_130839.5

p.E543delFs

c.1628delT

1 paper

NM_130839.5

p.I540_A541delFs

c.1618_1621del4

2 papers

NM_001374461.1

p.A521T

c.1561G>A

NM_130839.5

p.A541T

c.1621G>A

1 paper

NM_130838.4

p.I520delFs

c.1559_1560delGA

1 paper

NM_130838.4

p.I520fs

c.1558_1559fs

2 papers

NM_130838.4

p.K530del1

c.1588_1590delCTT

NM_130839.5

p.K549_K550del1

c.1588_1589delCTT

1 paper

NM_130839.5

p.K549_K550del2

c.1645_1649del6

2 papers

NM_130838.4

p.L517fs

c.1549_1550fs

NM_130839.5

p.L537fs

c.1609_1610fs

1 paper

NM_130838.4

p.Y533*

c.1599T>G

1 paper

NM_130838.4

p.R516_L517Splc

c.1549-8A>G

1 paper

NM_130838.4

p.F536insFs

c.1608dupT