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.N102S

c.305A>G

Surrounding Variants

2 papers

NM_004656.4

p.N102I

c.305A>T

1 paper

NM_004656.4

p.N102T

c.305A>C

1 paper

NM_004656.4

p.N102N

c.306C>T

4 papers

NM_004656.4

p.N102K

c.306C>G

6 papers

NM_004656.4

p.N102K

c.306C>A

1 paper

NM_004656.4

p.N102fs

c.304_305fs

1 paper

NM_004656.4

p.N102Y

c.304A>T

1 paper

NM_004656.4

p.N102D

c.304A>G

3 papers

NM_004656.4

p.N102H

c.304A>C

1 paper

NM_004656.4

p.C103R

c.307T>C

1 paper

NM_004656.4

p.C103S

c.307T>A

1 paper

NM_004656.4

p.N102delFs

c.306delG