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

11 papers

NM_004656.4

p.F170L

c.510T>G

Surrounding Variants

1 paper

NM_004656.4

p.F170F

c.510T>C

11 papers

NM_004656.4

p.F170L

c.510T>A

1 paper

NM_004656.4

p.F170delins

c.509_510delinsGA

1 paper

NM_004656.4

p.F170delins

c.508_510delinsGCC

2 papers

NM_004656.4

p.E166_F170delFs

c.497_509del13

13 papers

NM_004656.4

p.F170C

c.509T>G

5 papers

NM_004656.4

p.F170S

c.509T>C

1 paper

NM_004656.4

p.F170Y

c.509T>A

1 paper

NM_004656.4

p.V162_F170delFs

c.486_508del23

1 paper

NM_004656.4

p.V171F

c.511G>T

6 papers

NM_004656.4

p.F170insFs

c.510dupT

1 paper

NM_004656.4

p.V171L

c.511G>C