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

3 papers

NM_004656.4

p.D73delFs

c.217delC

Surrounding Variants

1 paper

NM_004656.4

p.D73V

c.218A>T

2 papers

NM_004656.4

p.D73G

c.218A>G

1 paper

NM_004656.4

p.D73A

c.218A>C

1 paper

NM_004656.4

p.V71_D73ins1

c.212_217dup6

1 paper

NM_004656.4

p.D73fs

c.217_218fs

1 paper

NM_004656.4

p.D73E

c.219T>G

1 paper

NM_004656.4

p.D73D

c.219T>C

1 paper

NM_004656.4

p.D73E

c.219T>A

7 papers

NM_004656.4

p.D73fs

c.217_218fs

2 papers

NM_004656.4

p.D73Y

c.217G>T

1 paper

NM_004656.4

p.D73H

c.217G>C

1 paper

NM_004656.4

p.D73N

c.217G>A