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.L1951insFs

c.5851_5852insT

Surrounding Variants

2 papers

NM_001039591.3

p.Y1953delFs

c.5857delT

3 papers

NM_001039591.3

p.Y1953fs

c.5857_5858fs

1 paper

NM_001039591.3

p.A1948A

c.5844T>C

2 papers

NM_001039591.3

p.E1954_R1955ins4

c.5860_5864ins12

1 paper

NM_001039591.3

p.N1947T

c.5840A>C

1 paper

NM_001039591.3

p.N1947S

c.5840A>G

1 paper

NM_001039591.3

p.E1954E

c.5862A>G

1 paper

NM_001039591.3

p.R1955*

c.5863C>T

1 paper

NM_001039591.3

p.W1945*

c.5835G>A

1 paper

NM_001039591.3

p.W1945*

c.5834G>A

1 paper

NM_001039591.3

p.D1957G

c.5870A>G

1 paper

NM_001039591.3

p.K1943K

c.5829A>G