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

6 papers

NM_004656.4

p.L180P

c.539T>C

Surrounding Variants

2 papers

NM_004656.4

p.L180R

c.539T>G

1 paper

NM_004656.4

p.L180H

c.539T>A

1 paper

NM_004656.4

p.L180delFs

c.538delG

1 paper

NM_004656.4

p.L180delins

c.538_539delinsGC

1 paper

NM_004656.4

p.R179_L180del1

c.536_538delGCC

2 papers

NM_004656.4

p.P175_R179del5

c.523_536del15

1 paper

NM_004656.4

p.L180L

c.540C>T

1 paper

NM_004656.4

p.L180F

c.538C>T

1 paper

NM_004656.4

p.L180L

c.540C>G

1 paper

NM_004656.4

p.L180V

c.538C>G

1 paper

NM_004656.4

p.L180fs

c.538_539fs

1 paper

NM_004656.4

p.L180L

c.540C>A