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.N78K

c.234T>G

Surrounding Variants

1 paper

NM_004656.4

p.N78N

c.234T>C

1 paper

NM_004656.4

p.N78K

c.234T>A

1 paper

NM_004656.4

p.N79fs

c.235_236fs

1 paper

NM_004656.4

p.N79Y

c.235A>T

1 paper

NM_004656.4

p.N78I

c.233A>T

19 papers

NM_004656.4

p.N78S

c.233A>G

1 paper

NM_004656.4

p.N79D

c.235A>G

2 papers

NM_004656.4

p.N78T

c.233A>C

1 paper

NM_004656.4

p.N79H

c.235A>C

1 paper

NM_004656.4

p.N78_N79insFs

c.234_235insT

1 paper

NM_004656.4

p.V77_N78delFs

c.229_232del4

7 papers

NM_004656.4

p.N78Y

c.232A>T