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.D535D

c.1605T>C

Surrounding Variants

2 papers

NM_004656.4

p.D535fs

c.1603_1604fs

1 paper

NM_004656.4

p.D535E

c.1605T>G

1 paper

NM_004656.4

p.D535E

c.1605T>A

1 paper

NM_004656.4

p.D535delFs

c.1604delT

2 papers

NM_004656.4

p.D536N

c.1606G>A

1 paper

NM_004656.4

p.D535G

c.1604A>G

1 paper

NM_004656.4

p.F532_E534del3

c.1594_1601del9

2 papers

NM_004656.4

p.D536G

c.1607A>G

1 paper

NM_004656.4

p.E534E

c.1602G>A

1 paper

NM_004656.4

p.S537G

c.1609A>G

2 papers

NM_004656.4

p.E534A

c.1601A>C

1 paper

NM_004656.4

p.V530_E534delFs

c.1588_1600del13