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.R385G

c.1153C>G

Surrounding Variants

40 papers

NM_004656.4

p.R385*

c.1153C>T

1 paper

NM_004656.4

p.R385L

c.1154G>T

1 paper

NM_004656.4

p.R385P

c.1154G>C

5 papers

NM_004656.4

p.R385Q

c.1154G>A

1 paper

NM_004656.4

p.R385delFs

c.1153delG

1 paper

NM_004656.4

p.R385delins

c.1153_1154delinsTA

1 paper

NM_004656.4

p.S384_R385delFs

c.1152_1153delGG

1 paper

NM_004656.4

p.S384R

c.1152C>G

1 paper

NM_004656.4

p.S384R

c.1152C>A

1 paper

NM_004656.4

p.S384delins

c.1151_1152delinsTT

1 paper

NM_004656.4

p.S384delins

c.1151_1152delinsAT

1 paper

NM_004656.4

p.S384delFs

c.1151delC