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

3 papers

NM_004656.4

p.S58_R60delFs

c.172_179del8

Surrounding Variants

1 paper

NM_004656.4

p.R60R

c.180A>T

1 paper

NM_004656.4

p.R60R

c.180A>G

1 paper

NM_004656.4

p.R60R

c.180A>C

2 papers

NM_004656.4

p.R59_R60delFs

c.175_179del5

1 paper

NM_004656.4

p.R57_R60delFs

c.170_179del10

1 paper

NM_004656.4

p.R56_R60del0

c.168_179del12

1 paper

NM_004656.4

p.R60L

c.179G>T

1 paper

NM_004656.4

p.R60P

c.179G>C

8 papers

NM_004656.4

p.R60Q

c.179G>A

1 paper

NM_004656.4

p.R59_R60Fs

c.175_179delinsAFs

1 paper

NM_004656.4

p.K61fs

c.181_182fs

1 paper

NM_004656.4

p.K61*

c.181A>T