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

10 papers

NM_004656.4

p.F170V

c.508T>G

Surrounding Variants

11 papers

NM_004656.4

p.F170L

c.508T>C

4 papers

NM_004656.4

p.F170I

c.508T>A

2 papers

NM_004656.4

p.F170fs

c.508_509fs

1 paper

NM_004656.4

p.H169delFs

c.507delG

1 paper

NM_004656.4

p.H169del1

c.505_507delGTG

1 paper

NM_004656.4

p.V162_H169delFs

c.486_507del22

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.H169H

c.507C>T

16 papers

NM_004656.4

p.H169Q

c.507C>G