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.D1598_M1599insA

c.4792_4796ins3

Surrounding Variants

1 paper

NM_001039591.3

p.D1598G

c.4793A>G

1 paper

NM_001039591.3

p.D1597N

c.4789G>A

1 paper

NM_001039591.3

p.M1599T

c.4796T>C

2 papers

NM_001039591.3

p.S1600A

c.4798T>G

1 paper

NM_001039591.3

p.G1592fs

c.4774_4775fs

1 paper

NM_001039591.3

p.G1592delFs

c.4775delG

1 paper

NM_001039591.3

p.D1606G

c.4817A>G

1 paper

NM_001039591.3

p.D1606E

c.4818C>A

1 paper

NM_001039591.3

p.D1606E

c.4818C>G

1 paper

NM_001039591.3

p.I1585M

c.4755T>G

1 paper

NM_001039591.3

p.Y1576N

c.4726T>A

2 papers

NM_001039591.3

p.Q1573L

c.4718A>T