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

4 papers

NM_001039591.3

p.Y1268*

c.3804T>G

Surrounding Variants

4 papers

NM_001039591.3

p.Y1268*

c.3804T>A

3 papers

NM_001039591.3

p.Y1268C

c.3803A>G

1 paper

NM_001039591.3

p.E1269Q

c.3805G>C

1 paper

NM_001039591.3

p.E1263A

c.3788A>C

1 paper

NM_001039591.3

p.P1260S

c.3778C>T

3 papers

NM_001039591.3

p.Q1255*

c.3763C>T

1 paper

NM_001039591.3

p.Q1255fs

c.3763_3764fs

1 paper

NM_001039591.3

p.L1254insFs

c.3761_3762insA

1 paper

NM_001039591.3

p.G1252R

c.3754G>A

1 paper

NM_001039591.3

p.G1252R

c.3754G>C

1 paper

NM_001039591.3

p.S1249delFs

c.3747delA

1 paper

NM_001039591.3

p.W1247R

c.3739T>A