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.R662*

c.1984A>T

Surrounding Variants

1 paper

NM_001039591.3

p.R662T

c.1985G>C

1 paper

NM_001039591.3

p.L661insFs

c.1981_1982insT

1 paper

NM_001039591.3

p.F660L

c.1980C>A

1 paper

NM_001039591.3

p.F660L

c.1980C>G

1 paper

NM_001039591.3

p.F660L

c.1978T>C

1 paper

NM_001039591.3

p.R657W

c.1969C>T

2 papers

NM_001039591.3

p.Q652insFs

c.1954_1955ins4

3 papers

NM_001039591.3

p.V651fs

c.1951_1952fs

1 paper

NM_001039591.3

p.R647fs

c.1939_1940fs

1 paper

NM_001039591.3

p.S646_R647delFs

c.1938_1941del4

5 papers

NM_001039591.3

p.Q640H

c.1920A>C

5 papers

NM_001039591.3

p.Q640H

c.1920A>T