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.S384delins

c.1151_1152delinsTT

Surrounding Variants

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_1152delinsAT

1 paper

NM_004656.4

p.S384delFs

c.1151delC

1 paper

NM_004656.4

p.S384delins

c.1151_1152delinsCA

1 paper

NM_004656.4

p.S384delins

c.1150_1152delinsTGT

1 paper

NM_004656.4

p.S384delins

c.1150_1152delinsCGG

1 paper

NM_004656.4

p.S384delins

c.1150_1152delinsTGA

1 paper

NM_004656.4

p.S384delins

c.1150_1152delinsGGA

1 paper

NM_004656.4

p.S384I

c.1151G>T

1 paper

NM_004656.4

p.S384T

c.1151G>C

1 paper

NM_004656.4

p.S384N

c.1151G>A