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.D184D

c.552T>C

Surrounding Variants

1 paper

NM_004656.4

p.D184E

c.552T>G

1 paper

NM_004656.4

p.D184E

c.552T>A

1 paper

NM_004656.4

p.D184delFs

c.551delT

1 paper

NM_004656.4

p.D184delins

c.551_552delinsCC

1 paper

NM_004656.4

p.D184delins

c.550_552delinsTGA

2 papers

NM_004656.4

p.G185W

c.553G>T

21 papers

NM_004656.4

p.G185R

c.553G>C

21 papers

NM_004656.4

p.G185R

c.553G>A

1 paper

NM_004656.4

p.D184delFs

c.552delA

1 paper

NM_004656.4

p.H169_D184del16

c.505_551del48

3 papers

NM_004656.4

p.D184V

c.551A>T

5 papers

NM_004656.4

p.D184G

c.551A>G