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.W1022*

c.3066G>A

Surrounding Variants

1 paper

NM_001039591.3

p.W1022C

c.3066G>C

1 paper

NM_001039591.3

p.W1022C

c.3066G>T

1 paper

NM_001039591.3

p.W1022*

c.3065G>A

1 paper

NM_001039591.3

p.L1027S

c.3080T>C

1 paper

NM_001039591.3

p.H1014R

c.3041A>G

1 paper

NM_001039591.3

p.N1032S

c.3095A>G

2 papers

NM_001039591.3

p.S1012P

c.3034T>C

6 papers

NM_001039591.3

p.V1009_I1010Splc

c.3028-2A>G

1 paper

NM_001039591.3

p.V1009_I1010Splc

c.3028-17T>C

1 paper

NM_001039591.3

p.V1009G

c.3026T>G

1 paper

NM_001039591.3

p.V1009fs

c.3025_3026fs

1 paper

NM_001039591.3

p.G1008*

c.3022G>T