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.E376V

c.1127A>T

Surrounding Variants

1 paper

NM_001039591.3

p.E376insFs

c.1127_1128ins7

1 paper

NM_001039591.3

p.E376fs

c.1126_1127fs

1 paper

NM_001039591.3

p.E377K

c.1129G>A

1 paper

NM_001039591.3

p.E377*

c.1129G>T

1 paper

NM_001039591.3

p.E377insFs

c.1130_1131ins8

1 paper

NM_001039591.3

p.P375L

c.1124C>T

1 paper

NM_001039591.3

p.E378K

c.1132G>A

1 paper

NM_001039591.3

p.E378insFs

c.1132_1133ins10

1 paper

NM_001039591.3

p.E378fs

c.1132_1133fs

1 paper

NM_001039591.3

p.E378V

c.1133A>T

1 paper

NM_001039591.3

p.E378_E379insFs

c.1134_1135insAT

1 paper

NM_001039591.3

p.E379Q

c.1135G>C