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.F181V

c.541T>G

Surrounding Variants

1 paper

NM_004656.4

p.F181L

c.541T>C

1 paper

NM_004656.4

p.F181I

c.541T>A

1 paper

NM_004656.4

p.L180delFs

c.540delG

1 paper

NM_004656.4

p.L180del1

c.538_540delGAG

1 paper

NM_004656.4

p.F181C

c.542T>G

2 papers

NM_004656.4

p.F181S

c.542T>C

1 paper

NM_004656.4

p.F181Y

c.542T>A

1 paper

NM_004656.4

p.L180L

c.540C>T

1 paper

NM_004656.4

p.L180L

c.540C>G

1 paper

NM_004656.4

p.L180fs

c.538_539fs

1 paper

NM_004656.4

p.L180L

c.540C>A

1 paper

NM_004656.4

p.L180delFs

c.539delA