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.L538fs

c.1612_1613fs

Surrounding Variants

1 paper

NM_004656.4

p.L538L

c.1614G>A

1 paper

NM_004656.4

p.L538delFs

c.1613delA

2 papers

NM_004656.4

p.L539L

c.1615C>T

1 paper

NM_004656.4

p.D536_L538del3

c.1606_1613del9

2 papers

NM_004656.4

p.L539Q

c.1616T>A

1 paper

NM_004656.4

p.L538fs

c.1612_1613fs

1 paper

NM_004656.4

p.S537S

c.1611C>T

1 paper

NM_004656.4

p.S537R

c.1611C>A

1 paper

NM_004656.4

p.S537N

c.1610G>A

1 paper

NM_004656.4

p.R540C

c.1618C>T

2 papers

NM_004656.4

p.R540G

c.1618C>G

2 papers

NM_004656.4

p.R540S

c.1618C>A