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.N999S

c.2996A>G

Surrounding Variants

1 paper

NM_001039591.3

p.D996V

c.2987A>T

1 paper

NM_001039591.3

p.G1008*

c.3022G>T

1 paper

NM_001039591.3

p.V1009fs

c.3025_3026fs

1 paper

NM_001039591.3

p.V1009G

c.3026T>G

1 paper

NM_001039591.3

p.S982F

c.2945C>T

1 paper

NM_001039591.3

p.S980C

c.2939C>G

1 paper

NM_001039591.3

p.P973S

c.2917C>T

2 papers

NM_001039591.3

p.N971S

c.2912A>G

1 paper

NM_001039591.3

p.I968L

c.2902A>C

1 paper

NM_001039591.3

p.I968L

c.2902A>T

1 paper

NM_001039591.3

p.D945N

c.2833G>A

1 paper

NM_001039591.3

p.A944T

c.2830G>A