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.M211L

c.631A>T

Surrounding Variants

2 papers

NM_004656.4

p.M211fs

c.631_632fs

3 papers

NM_004656.4

p.M211V

c.631A>G

1 paper

NM_004656.4

p.M211L

c.631A>C

1 paper

NM_004656.4

p.I210insFs

c.630dupC

1 paper

NM_004656.4

p.M211T

c.632T>C

1 paper

NM_004656.4

p.I210I

c.630C>T

2 papers

NM_004656.4

p.I210insFs

c.629dupT

1 paper

NM_004656.4

p.I210fs

c.628_629fs

2 papers

NM_004656.4

p.I210T

c.629T>C

1 paper

NM_004656.4

p.I210N

c.629T>A

1 paper

NM_004656.4

p.E212*

c.634G>T

1 paper

NM_004656.4

p.E212Q

c.634G>C