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.V388F

c.1162G>T

Surrounding Variants

1 paper

NM_004656.4

p.V388L

c.1162G>C

2 papers

NM_004656.4

p.V388I

c.1162G>A

1 paper

NM_004656.4

p.P387delFs

c.1161delT

1 paper

NM_004656.4

p.V388G

c.1163T>G

1 paper

NM_004656.4

p.V388A

c.1163T>C

1 paper

NM_004656.4

p.V388D

c.1163T>A

1 paper

NM_004656.4

p.V388delFs

c.1162delC

1 paper

NM_004656.4

p.S384_V388delFs

c.1152_1162del11

1 paper

NM_004656.4

p.P387P

c.1161A>G

1 paper

NM_004656.4

p.P387delins

c.1160_1161delinsTG

1 paper

NM_004656.4

p.P387delins

c.1160_1161delinsGG

1 paper

NM_004656.4

p.P387delins

c.1160_1161delinsAG