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

2 papers

NM_004656.4

p.D67V

c.200A>T

Surrounding Variants

6 papers

NM_004656.4

p.D67G

c.200A>G

1 paper

NM_004656.4

p.D67A

c.200A>C

1 paper

NM_004656.4

p.K61_D67delins

c.182_200delinsC

1 paper

NM_004656.4

p.D67E

c.201T>G

1 paper

NM_004656.4

p.D67D

c.201T>C

1 paper

NM_004656.4

p.D67E

c.201T>A

2 papers

NM_004656.4

p.D67Y

c.199G>T

1 paper

NM_004656.4

p.D67H

c.199G>C

2 papers

NM_004656.4

p.D67N

c.199G>A

1 paper

NM_004656.4

p.T64_V66del3

c.190_197del9

2 papers

NM_004656.4

p.D68Y

c.202G>T

1 paper

NM_004656.4

p.V66V

c.198G>T