Varaico: Literature-Extracted Genetic Variants

USP9X

383 papers

RefSeq Summary

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mut...

Pfam Domains

ARM_UBP24_USP9X-Yaa 329–753UCSCUBP24/USP9X/USP9Y ARM repeat

UCH_UBL1aa 886–972UCSCUbiquitin carboxyl-terminal hydrolases, Ubiquitin-like 1

UCHaa 1562–1958UCSCUbiquitin carboxyl-terminal hydrolase

DUF3517aa 2102–2464UCSCDomain of unknown function (DUF3517)

Gene Aliases

HGNC Name

ubiquitin specific peptidase 9 X-linked

HGNC Alias Symbols

DFFRX; FAF-X; MRX99

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039591.3

p.H1879_Y1880del2

c.5635_5639del6

Surrounding Variants

1 paper

NM_001039591.3

p.H1879fs

c.5635_5636fs

1 paper

NM_001039591.3

p.Y1881_S1882del1

c.5642_5644delATT

2 papers

NM_001039591.3

p.G1878W

c.5632G>T

1 paper

NM_001039591.3

p.G1878delFs

c.5634delG

1 paper

NM_001039591.3

p.S1876G

c.5626A>G

1 paper

NM_001039591.3

p.A1875V

c.5624C>T

1 paper

NM_001039591.3

p.S1872N

c.5615G>A

1 paper

NM_001039591.3

p.V1870I

c.5608G>A

1 paper

NM_001039591.3

p.L1869insFs

c.5606_5607dupTC

1 paper

NM_001039591.3

p.V1868E

c.5603T>A

1 paper

NM_001039591.3

p.G1867D

c.5600G>A

2 papers

NM_001039591.3

p.G1890E

c.5669G>A