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.L96S

c.287T>C

Surrounding Variants

1 paper

NM_004656.4

p.L96W

c.287T>G

1 paper

NM_004656.4

p.C91_L96del0

c.272_286del15

1 paper

NM_004656.4

p.L96F

c.288G>T

1 paper

NM_004656.4

p.L96fs

c.286_287fs

1 paper

NM_004656.4

p.L96F

c.288G>C

3 papers

NM_004656.4

p.L96L

c.288G>A

1 paper

NM_004656.4

p.L97fs

c.289_290fs

1 paper

NM_004656.4

p.A95A

c.285C>T

3 papers

NM_004656.4

p.A95fs

c.283_284fs

2 papers

NM_004656.4

p.L96delFs

c.287_288delCA

1 paper

NM_004656.4

p.L96del1

c.286_288delCAA

6 papers

NM_004656.4

p.L97P

c.290T>C