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.R213R

c.639T>C

Surrounding Variants

1 paper

NM_004656.4

p.A206_R213delFs

c.617_638del22

2 papers

NM_004656.4

p.R213L

c.638G>T

4 papers

NM_004656.4

p.R213P

c.638G>C

6 papers

NM_004656.4

p.R213H

c.638G>A

2 papers

NM_004656.4

p.I214fs

c.640_641fs

4 papers

NM_004656.4

p.R213insFs

c.639dupT

1 paper

NM_004656.4

p.I214_G215insCT

c.640_644ins6

6 papers

NM_004656.4

p.R213C

c.637C>T

1 paper

NM_004656.4

p.R213G

c.637C>G

1 paper

NM_004656.4

p.R213_I214insT

c.637_641ins3

1 paper

NM_004656.4

p.R213_I214insAT

c.637_641ins6

1 paper

NM_004656.4

p.R213S

c.637C>A