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.N89_L100del0

c.265_300del36

Surrounding Variants

2 papers

NM_004656.4

p.L101L

c.301C>T

1 paper

NM_004656.4

p.A92_L100del0

c.274_300del27

3 papers

NM_004656.4

p.L101R

c.302T>G

3 papers

NM_004656.4

p.L101P

c.302T>C

2 papers

NM_004656.4

p.L101Q

c.302T>A

4 papers

NM_004656.4

p.L100fs

c.298_299fs

1 paper

NM_004656.4

p.L97_V99del3

c.289_296del9

1 paper

NM_004656.4

p.L97_L100delFs

c.290_299del10

5 papers

NM_004656.4

p.L100R

c.299T>G

10 papers

NM_004656.4

p.L100P

c.299T>C

1 paper

NM_004656.4

p.S98_V99delFs

c.294_297del4

1 paper

NM_004656.4

p.L101L

c.303G>T