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.R385R

c.1155A>C

Surrounding Variants

1 paper

NM_004656.4

p.R385delins

c.1154_1155delinsTG

1 paper

NM_004656.4

p.R385delins

c.1154_1155delinsAG

1 paper

NM_004656.4

p.R385delins

c.1154_1155delinsCC

1 paper

NM_004656.4

p.R385delFs

c.1154delC

1 paper

NM_004656.4

p.R385delins

c.1153_1155delinsGGC

1 paper

NM_004656.4

p.R385delins

c.1153_1155delinsGCC

1 paper

NM_004656.4

p.V386F

c.1156G>T

1 paper

NM_004656.4

p.R385L

c.1154G>T

1 paper

NM_004656.4

p.V386L

c.1156G>C

1 paper

NM_004656.4

p.R385P

c.1154G>C

5 papers

NM_004656.4

p.R385Q

c.1154G>A

2 papers

NM_004656.4

p.V386I

c.1156G>A