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.K61T

c.182A>C

Surrounding Variants

4 papers

NM_004656.4

p.K61M

c.182A>T

7 papers

NM_004656.4

p.K61R

c.182A>G

1 paper

NM_004656.4

p.K61N

c.183G>T

3 papers

NM_004656.4

p.K61fs

c.181_182fs

1 paper

NM_004656.4

p.K61N

c.183G>C

1 paper

NM_004656.4

p.K61K

c.183G>A

1 paper

NM_004656.4

p.K61delFs

c.182delT

1 paper

NM_004656.4

p.K61fs

c.181_182fs

1 paper

NM_004656.4

p.R57_K61delFs

c.169_182del14

1 paper

NM_004656.4

p.R56_K61del0

c.168_182del15

1 paper

NM_004656.4

p.K61*

c.181A>T

1 paper

NM_004656.4

p.K61E

c.181A>G