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

2 papers

NM_004656.4

p.S680fs

c.2038_2039fs

Surrounding Variants

1 paper

NM_004656.4

p.S680S

c.2040C>T

1 paper

NM_004656.4

p.M681insFs

c.2041_2042insT

3 papers

NM_004656.4

p.M681fs

c.2041_2042fs

1 paper

NM_004656.4

p.I679I

c.2037C>T

1 paper

NM_004656.4

p.I679insFs

c.2036dupT

1 paper

NM_004656.4

p.I679fs

c.2035_2036fs

1 paper

NM_004656.4

p.I679I

c.2037C>A

1 paper

NM_004656.4

p.I679delFs

c.2036delA

1 paper

NM_004656.4

p.I679delFs

c.2035_2036delAT

1 paper

NM_004656.4

p.F678_I679delFs

c.2032_2036del5

3 papers

NM_004656.4

p.N670_I679delFs

c.2010_2035del26

1 paper

NM_004656.4

p.L682L

c.2044C>T