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.L429_Q436delFs

c.1285_1307del23

Surrounding Variants

1 paper

NM_004656.4

p.Q436Q

c.1308A>G

3 papers

NM_004656.4

p.Q436fs

c.1306_1307fs

1 paper

NM_004656.4

p.L437fs

c.1309_1310fs

1 paper

NM_004656.4

p.L437L

c.1309C>T

1 paper

NM_004656.4

p.L437P

c.1310T>C

6 papers

NM_004656.4

p.Q436*

c.1306C>T

6 papers

NM_004656.4

p.G435delFs

c.1305delC

6 papers

NM_004656.4

p.Q436fs

c.1306_1307fs

1 paper

NM_004656.4

p.L437L

c.1311G>T

1 paper

NM_004656.4

p.G435G

c.1305G>T

1 paper

NM_004656.4

p.L437L

c.1311G>C

1 paper

NM_004656.4

p.L437L

c.1311G>A