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.E413K

c.1237G>A

Surrounding Variants

2 papers

NM_001374461.1

p.L390F

c.1170G>T

2 papers

NM_001374461.1

p.L390F

c.1170G>C

1 paper

NM_130839.5

p.G411_R415delFs

c.1233_1243del11

1 paper

NM_130839.5

p.K417M

c.1250A>T

1 paper

NM_001374461.1

p.E388D

c.1164A>T

1 paper

NM_001374461.1

p.E388D

c.1164A>C

2 papers

NM_130839.5

p.K418_G419insG

c.1252_1256ins3

1 paper

NM_130839.5

p.Q407*

c.1219C>T

1 paper

NM_130839.5

p.L406F

c.1216C>T

3 papers

NM_001354526.1

p.P400H

c.1199C>A

1 paper

NM_130838.4

p.R401*

c.1201C>T

1 paper

NM_130838.4

p.E383D

c.1149G>T