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.R512C

c.1534C>T

Surrounding Variants

1 paper

NM_004656.4

p.R512G

c.1534C>G

1 paper

NM_004656.4

p.R512S

c.1534C>A

2 papers

NM_004656.4

p.R512L

c.1535G>T

1 paper

NM_004656.4

p.R512P

c.1535G>C

1 paper

NM_004656.4

p.R512H

c.1535G>A

1 paper

NM_004656.4

p.I511I

c.1533C>T

2 papers

NM_004656.4

p.I511M

c.1533C>G

1 paper

NM_004656.4

p.I511insFs

c.1532_1533insT

1 paper

NM_004656.4

p.I511fs

c.1531_1532fs

2 papers

NM_004656.4

p.R512R

c.1536C>T

1 paper

NM_004656.4

p.R512fs

c.1534_1535fs

1 paper

NM_004656.4

p.I511fs

c.1531_1532fs