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.M115fs

c.343_344fs

Surrounding Variants

1 paper

NM_004656.4

p.M115L

c.343A>T

2 papers

NM_004656.4

p.M115V

c.343A>G

1 paper

NM_004656.4

p.M115L

c.343A>C

1 paper

NM_004656.4

p.L112_R114delFs

c.336_342del7

1 paper

NM_004656.4

p.L112_R114del3

c.334_341del9

1 paper

NM_004656.4

p.M115T

c.344T>C

1 paper

NM_004656.4

p.M115K

c.344T>A

1 paper

NM_004656.4

p.R114R

c.342C>A

1 paper

NM_004656.4

p.R114L

c.341G>T

1 paper

NM_004656.4

p.R114P

c.341G>C

7 papers

NM_004656.4

p.R114H

c.341G>A

1 paper

NM_004656.4

p.L112_S113del2

c.334_338del6