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.E1764K

c.5290G>A

Surrounding Variants

1 paper

NM_001039591.3

p.L1762*

c.5285T>A

1 paper

NM_001039591.3

p.L1762*

c.5285T>G

1 paper

NM_001039591.3

p.N1767H

c.5299A>C

1 paper

NM_001039591.3

p.D1761Y

c.5281G>T

1 paper

NM_001039591.3

p.L1754S

c.5261T>C

1 paper

NM_001039591.3

p.K1777_V1778Splc

c.5331+1G>A

1 paper

NM_001039591.3

p.R1745I

c.5234G>T

1 paper

NM_001039591.3

p.R1745fs

c.5233_5234fs

1 paper

NM_001039591.3

p.R1745_N1746delFs

c.5233_5236del4

1 paper

NM_001039591.3

p.E1734K

c.5200G>A

1 paper

NM_001039591.3

p.R1730S

c.5190G>T

1 paper

NM_001039591.3

p.K1777_V1778Splc

c.5332-1G>A