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.A95G

c.284C>G

Surrounding Variants

3 papers

NM_004656.4

p.A95V

c.284C>T

24 papers

NM_004656.4

p.A95D

c.284C>A

4 papers

NM_004656.4

p.A95S

c.283G>T

8 papers

NM_004656.4

p.A95P

c.283G>C

1 paper

NM_004656.4

p.A95T

c.283G>A

1 paper

NM_004656.4

p.H94delFs

c.281_282delAT

1 paper

NM_004656.4

p.A95A

c.285C>T

3 papers

NM_004656.4

p.A95fs

c.283_284fs

1 paper

NM_004656.4

p.H94Q

c.282T>G

1 paper

NM_004656.4

p.H94H

c.282T>C

1 paper

NM_004656.4

p.H94Q

c.282T>A

2 papers

NM_004656.4

p.T93_H94delFs

c.278_281del4