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.R1730S

c.5190G>C

Surrounding Variants

1 paper

NM_001039591.3

p.R1730S

c.5190G>T

2 papers

NM_001039591.3

p.H1729R

c.5186A>G

1 paper

NM_001039591.3

p.D1720N

c.5158G>A

1 paper

NM_001039591.3

p.K1712fs

c.5134_5135fs

1 paper

NM_001039591.3

p.V1694M

c.5080G>A

5 papers

NM_001039591.3

p.L1693W

c.5078T>G

1 paper

NM_001039591.3

p.S1692L

c.5075C>T

1 paper

NM_001039591.3

p.E1688A

c.5063A>C

1 paper

NM_001039591.3

p.E1688V

c.5063A>T

1 paper

NM_001039591.3

p.E1688K

c.5062G>A

2 papers

NM_001039591.3

p.D1685N

c.5053G>A

1 paper

NM_001039591.3

p.R1730S

c.5190G>T