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

4 papers

NM_004656.4

p.E566*

c.1696G>T

Surrounding Variants

5 papers

NM_004656.4

p.A565_E566insFs

c.1695_1696insT

3 papers

NM_004656.4

p.E566K

c.1696G>A

1 paper

NM_004656.4

p.E566V

c.1697A>T

2 papers

NM_004656.4

p.E566A

c.1697A>C

2 papers

NM_004656.4

p.E566fs

c.1696_1697fs

1 paper

NM_004656.4

p.A565V

c.1694C>T

1 paper

NM_004656.4

p.A565G

c.1694C>G

1 paper

NM_004656.4

p.A565D

c.1694C>A

1 paper

NM_004656.4

p.A565S

c.1693G>T

1 paper

NM_004656.4

p.A565P

c.1693G>C

2 papers

NM_004656.4

p.A565T

c.1693G>A

1 paper

NM_004656.4

p.D567N

c.1699G>A