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.V541fs

c.1621_1622fs

Surrounding Variants

2 papers

NM_004656.4

p.V541G

c.1622T>G

1 paper

NM_004656.4

p.V541A

c.1622T>C

1 paper

NM_004656.4

p.V541delFs

c.1621delC

2 papers

NM_004656.4

p.D542N

c.1624G>A

2 papers

NM_004656.4

p.V541I

c.1621G>A

1 paper

NM_004656.4

p.L538_R540del3

c.1612_1619del9

1 paper

NM_004656.4

p.R540fs

c.1618_1619fs

1 paper

NM_004656.4

p.R540R

c.1620T>C

1 paper

NM_004656.4

p.D542D

c.1626C>T

1 paper

NM_004656.4

p.R540L

c.1619G>T

1 paper

NM_004656.4

p.R540P

c.1619G>C

2 papers

NM_004656.4

p.R540H

c.1619G>A