Varaico: Literature-Extracted Genetic Variants

BAP1

1,324 papers

RefSeq Summary

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer...

Pfam Domains

Peptidase_C12aa 5–215UCSCUbiquitin carboxyl-terminal hydrolase, family 1

UCH_Caa 643–688UCSCUbiquitin carboxyl-terminal hydrolases

Gene Aliases

HGNC Name

BRCA1 associated deubiquitinase 1

HGNC Alias Symbols

hucep-6; KIAA0272; UCHL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004656.4

p.E673delFs

c.2019delC

Surrounding Variants

3 papers

NM_004656.4

p.F674L

c.2020T>C

1 paper

NM_004656.4

p.E673del1

c.2017_2018delCTC

1 paper

NM_004656.4

p.F674C

c.2021T>G

1 paper

NM_004656.4

p.Y671_F674delFs

c.2013_2020del8

2 papers

NM_004656.4

p.E673fs

c.2017_2018fs

3 papers

NM_004656.4

p.F674L

c.2022C>G

3 papers

NM_004656.4

p.F674L

c.2022C>A

3 papers

NM_004656.4

p.E673*

c.2017G>T

1 paper

NM_004656.4

p.E673insFs

c.2017_2018insC

1 paper

NM_004656.4

p.E673fs

c.2017_2018fs

2 papers

NM_004656.4

p.I675F

c.2023A>T

1 paper

NM_004656.4

p.D672fs

c.2014_2015fs