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.P175H

c.524C>A

Surrounding Variants

4 papers

NM_004656.4

p.P175L

c.524C>T

12 papers

NM_004656.4

p.P175R

c.524C>G

1 paper

NM_004656.4

p.P175delins

c.523_524delinsTT

1 paper

NM_004656.4

p.P175P

c.525T>G

1 paper

NM_004656.4

p.P175P

c.525T>C

1 paper

NM_004656.4

p.P175P

c.525T>A

1 paper

NM_004656.4

p.P175delFs

c.524delG

1 paper

NM_004656.4

p.P175delins

c.524_525delinsTG

1 paper

NM_004656.4

p.P175delins

c.523_525delinsGCC

1 paper

NM_004656.4

p.P175delins

c.523_525delinsTGA

3 papers

NM_004656.4

p.P175S

c.523C>T

1 paper

NM_004656.4

p.P175A

c.523C>G