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.T111fs

c.331_332fs

Surrounding Variants

1 paper

NM_004656.4

p.T111T

c.333C>T

1 paper

NM_004656.4

p.T111T

c.333C>G

1 paper

NM_004656.4

p.L112fs

c.334_335fs

1 paper

NM_004656.4

p.L112L

c.334C>T

1 paper

NM_004656.4

p.S105_T111del0

c.313_333del21

3 papers

NM_004656.4

p.L112R

c.335T>G

4 papers

NM_004656.4

p.L112P

c.335T>C

1 paper

NM_004656.4

p.L112Q

c.335T>A

1 paper

NM_004656.4

p.L112delFs

c.334delG

1 paper

NM_004656.4

p.T111_L112delFs

c.331_334del4

1 paper

NM_004656.4

p.P110_L112Fs

c.329_335delinsTCFs

2 papers

NM_004656.4

p.T111A

c.331A>G