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.A206fs

c.616_617fs

Surrounding Variants

1 paper

NM_004656.4

p.A206S

c.616G>T

1 paper

NM_004656.4

p.A206P

c.616G>C

3 papers

NM_004656.4

p.A206T

c.616G>A

1 paper

NM_004656.4

p.K205N

c.615G>T

1 paper

NM_004656.4

p.K205N

c.615G>C

1 paper

NM_004656.4

p.K205K

c.615G>A

1 paper

NM_004656.4

p.A206V

c.617C>T

1 paper

NM_004656.4

p.A206G

c.617C>G

3 papers

NM_004656.4

p.A206D

c.617C>A

1 paper

NM_004656.4

p.A206A

c.618C>A

2 papers

NM_004656.4

p.K205R

c.614A>G

1 paper

NM_004656.4

p.R207W

c.619C>T