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.P519fs

c.1555_1556fs

Surrounding Variants

1 paper

NM_004656.4

p.P519P

c.1557C>T

1 paper

NM_004656.4

p.S520P

c.1558T>C

1 paper

NM_004656.4

p.T517_P519del3

c.1549_1556del9

2 papers

NM_004656.4

p.P519L

c.1556C>T

1 paper

NM_004656.4

p.S520F

c.1559C>T

3 papers

NM_004656.4

p.P519A

c.1555C>G

1 paper

NM_004656.4

p.P519_S520insA

c.1555_1559ins3

2 papers

NM_004656.4

p.R518fs

c.1552_1553fs

1 paper

NM_004656.4

p.R518R

c.1554G>C

1 paper

NM_004656.4

p.R518R

c.1554G>A

1 paper

NM_004656.4

p.R518delFs

c.1552_1553delCG

1 paper

NM_004656.4

p.S520S

c.1560C>T