Varaico: Literature-Extracted Genetic Variants

USP40

45 papers

RefSeq Summary

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs t...

Pfam Domains

UCHaa 41–87UCSCUbiquitin carboxyl-terminal hydrolase

UCHaa 41–341UCSCUbiquitin carboxyl-terminal hydrolase

UBL_USP40aa 842–929UCSCUSP40 ubiquitin-like domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 40

HGNC Alias Symbol

FLJ10785

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365479.2

p.I1181_R1182del2

c.3541_3545del6

Surrounding Variants

1 paper

NM_001365479.2

p.I1181_R1182del1

c.3543_3545delCTG

1 paper

NM_001365479.2

p.L1159delFs

c.3477delC

1 paper

NM_001365479.2

p.L1159_K1160insFs

c.3477_3478insA

1 paper

NM_001365479.2

p.P1156_Y1158del3

c.3466_3473del9

1 paper

NM_001365479.2

p.P1156_Y1158del0

c.3468_3473del6

1 paper

NM_001365479.2

p.G1154_P1156del3

c.3460_3467del9

1 paper

NM_001365479.2

p.G1154_P1156del0

c.3461_3466del6

3 papers

NM_001365479.2

p.K1147delFs

c.3441delT

1 paper

NM_001365479.2

p.K1147fs

c.3439_3440fs

2 papers

NM_001365479.2

p.K1122R

c.3365A>G

1 paper

NM_001365479.2

p.A1100D

c.3299C>A

1 paper

NM_001365479.2

p.S975insFs

c.2923dupT