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.W52G

c.154T>G

Surrounding Variants

1 paper

NM_004656.4

p.W52R

c.154T>C

1 paper

NM_004656.4

p.W52R

c.154T>A

1 paper

NM_004656.4

p.K51delFs

c.153delT

1 paper

NM_004656.4

p.W52L

c.155G>T

1 paper

NM_004656.4

p.W52S

c.155G>C

8 papers

NM_004656.4

p.W52*

c.155G>A

1 paper

NM_004656.4

p.I47_W52delFs

c.141_154del14

1 paper

NM_004656.4

p.K51N

c.153A>T

1 paper

NM_004656.4

p.K51K

c.153A>G

1 paper

NM_004656.4

p.K51N

c.153A>C

2 papers

NM_004656.4

p.K51fs

c.151_152fs

1 paper

NM_004656.4

p.W52C

c.156G>T