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

1–12 of 7773 variants

63 papers

NM_004656.4

p.C91S

c.272G>C

62 papers

NM_004656.4

p.C91S

c.271T>A

49 papers

NM_004656.4

p.Q684*

c.2050C>T

46 papers

NM_004656.4

p.R60*

c.178C>T

40 papers

NM_004656.4

p.R385*

c.1153C>T

34 papers

NM_004656.4

p.Y173C

c.518A>G

33 papers

NM_004656.4

p.W196*

c.587G>A

33 papers

NM_004656.4

p.W196*

c.588G>A

26 papers

NM_004656.4

p.L573delFs

c.1717delG

24 papers

NM_004656.4

p.A95D

c.284C>A

21 papers

NM_004656.4

p.C91G

c.271T>G

21 papers

NM_004656.4

p.G185R

c.553G>C