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.R417Splc

c.1251-8C>A

Surrounding Variants

1 paper

NM_004656.4

p.R417Splc

c.1251-9G>A

1 paper

NM_004656.4

p.R417Splc

c.1251-7C>T

1 paper

NM_004656.4

p.R417Splc

c.1251-7C>A

1 paper

NM_004656.4

p.R417Splc

c.1251-11G>C

2 papers

NM_004656.4

p.R417Splc

c.1251-11G>A

1 paper

NM_004656.4

p.R417Splc

c.1251-12C>T

2 papers

NM_004656.4

p.R417Splc

c.1251-4A>G

1 paper

NM_004656.4

p.R417Splc

c.1251-3C>T

1 paper

NM_004656.4

p.R417Splc

c.1251-2A>T

2 papers

NM_004656.4

p.R417G

c.1249A>G

3 papers

NM_004656.4

p.R417M

c.1250G>T

2 papers

NM_004656.4

p.R417Splc

c.1251-1G>C