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.L437Fs

c.1309_1311delinsTFs

Surrounding Variants

1 paper

NM_004656.4

p.L437L

c.1311G>T

1 paper

NM_004656.4

p.L437L

c.1311G>C

1 paper

NM_004656.4

p.L437L

c.1311G>A

1 paper

NM_004656.4

p.S438P

c.1312T>C

1 paper

NM_004656.4

p.L437P

c.1310T>C

1 paper

NM_004656.4

p.L437delFs

c.1311delC

1 paper

NM_004656.4

p.L437fs

c.1309_1310fs

1 paper

NM_004656.4

p.L437L

c.1309C>T

1 paper

NM_004656.4

p.S438*

c.1313C>G

1 paper

NM_004656.4

p.S438*

c.1313C>A

1 paper

NM_004656.4

p.S438S

c.1314A>T

1 paper

NM_004656.4

p.S438S

c.1314A>G