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

1–12 of 752 variants

8 papers

NM_001039591.3

p.C1566S

c.4696T>A

8 papers

NM_001039591.3

p.C1566S

c.4697G>C

6 papers

NM_001039591.3

p.R852*

c.2554C>T

6 papers

NM_001039591.3

p.V1009_I1010Splc

c.3028-2A>G

5 papers

NM_001039591.3

p.R371*

c.1111C>T

5 papers

NM_001039591.3

p.Q640H

c.1920A>C

5 papers

NM_001039591.3

p.Q640H

c.1920A>T

5 papers

NM_001039591.3

p.L1693W

c.5078T>G

4 papers

NM_001039591.3

p.Y1268*

c.3804T>A

4 papers

NM_001039591.3

p.Y1268*

c.3804T>G

3 papers

NM_001039591.3

p.G12V

c.35G>T

3 papers

NM_001039591.3

p.R83*

c.247C>T