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.Q85fs

c.253_254fs

Surrounding Variants

4 papers

NM_004656.4

p.Q85H

c.255G>T

5 papers

NM_004656.4

p.Q85H

c.255G>C

1 paper

NM_004656.4

p.Q85_L86Splc

c.255+1G>T

2 papers

NM_004656.4

p.Q85_L86Splc

c.255+1G>A

2 papers

NM_004656.4

p.Q85L

c.254A>T

1 paper

NM_004656.4

p.Q85R

c.254A>G

4 papers

NM_004656.4

p.Q85P

c.254A>C

1 paper

NM_004656.4

p.Q85_L86Splc

c.255+2T>G

1 paper

NM_004656.4

p.Q85_L86Splc

c.255+2T>C

1 paper

NM_004656.4

p.Q85fs

c.253_254fs

6 papers

NM_004656.4

p.Q85*

c.253C>T

1 paper

NM_004656.4

p.Q85K

c.253C>A