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.R208L

c.623G>T

Surrounding Variants

2 papers

NM_004656.4

p.R208P

c.623G>C

3 papers

NM_004656.4

p.R208Q

c.623G>A

1 paper

NM_004656.4

p.R208delFs

c.622delG

1 paper

NM_004656.4

p.R208fs

c.622_623fs

1 paper

NM_004656.4

p.R208R

c.624G>C

1 paper

NM_004656.4

p.R208R

c.624G>A

4 papers

NM_004656.4

p.R208W

c.622C>T

2 papers

NM_004656.4

p.R208G

c.622C>G

2 papers

NM_004656.4

p.R207fs

c.619_620fs

1 paper

NM_004656.4

p.V209insFs

c.625_626insAA

1 paper

NM_004656.4

p.V209L

c.625G>C

1 paper

NM_004656.4

p.V209I

c.625G>A