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.E54D

c.162A>C

Surrounding Variants

1 paper

NM_004656.4

p.E54D

c.162A>T

1 paper

NM_004656.4

p.E54E

c.162A>G

1 paper

NM_004656.4

p.E55*

c.163G>T

1 paper

NM_004656.4

p.E55Q

c.163G>C

2 papers

NM_004656.4

p.E55K

c.163G>A

1 paper

NM_004656.4

p.E55fs

c.163_164fs

1 paper

NM_004656.4

p.W52_E54del3

c.154_161del9

1 paper

NM_004656.4

p.E54V

c.161A>T

1 paper

NM_004656.4

p.E54G

c.161A>G

2 papers

NM_004656.4

p.E54A

c.161A>C

3 papers

NM_004656.4

p.E54*

c.160G>T

2 papers

NM_004656.4

p.E54Q

c.160G>C