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.A83G

c.248C>G

Surrounding Variants

5 papers

NM_004656.4

p.A83V

c.248C>T

1 paper

NM_004656.4

p.A83D

c.248C>A

4 papers

NM_004656.4

p.A83S

c.247G>T

4 papers

NM_004656.4

p.A83P

c.247G>C

5 papers

NM_004656.4

p.A83T

c.247G>A

2 papers

NM_004656.4

p.A83A

c.249C>T

1 paper

NM_004656.4

p.A83A

c.249C>G

1 paper

NM_004656.4

p.A83A

c.249C>A

1 paper

NM_004656.4

p.F82fs

c.244_245fs

1 paper

NM_004656.4

p.F82L

c.246T>G

1 paper

NM_004656.4

p.F82F

c.246T>C

1 paper

NM_004656.4

p.F82L

c.246T>A