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.R213G

c.637C>G

Surrounding Variants

6 papers

NM_004656.4

p.R213C

c.637C>T

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

1 paper

NM_004656.4

p.I210_E212del0

c.628_636del9

1 paper

NM_004656.4

p.R207_E212delFs

c.621_636del16

2 papers

NM_004656.4

p.R213L

c.638G>T

1 paper

NM_004656.4

p.E212D

c.636G>T

1 paper

NM_004656.4

p.E212fs

c.634_635fs

4 papers

NM_004656.4

p.R213P

c.638G>C

1 paper

NM_004656.4

p.E212D

c.636G>C

6 papers

NM_004656.4

p.R213H

c.638G>A