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_001374461.1

p.N692H

c.2074A>C

Surrounding Variants

1 paper

NM_001374461.1

p.N692S

c.2075A>G

5 papers

NM_001374461.1

p.F690C

c.2069T>G

1 paper

NM_130838.4

p.K688_E689Splc

c.2065-2A>C

2 papers

NM_001374461.1

p.K701I

c.2102A>T

1 paper

NM_130838.4

p.K701insFs

c.2102_2103ins4

1 paper

NM_130838.4

p.K701_S702insFs

c.2103_2104ins4

1 paper

NM_130838.4

p.K701fs

c.2101_2102fs

1 paper

NM_130839.5

p.E724A

c.2171A>C

2 papers

NM_130839.5

p.F727L

c.2179T>C

1 paper

NM_130839.5

p.Q726del1

c.2176_2178delCTG

2 papers

NM_130839.5

p.F727L

c.2181C>G

2 papers

NM_130839.5

p.F727L

c.2181C>A