Varaico: Literature-Extracted Genetic Variants

USP9Y

73 papers

RefSeq Summary

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitin...

Pfam Domains

ARM_UBP24_USP9X-Yaa 330–749UCSCUBP24/USP9X/USP9Y ARM repeat

UCH_UBL1aa 882–968UCSCUbiquitin carboxyl-terminal hydrolases, Ubiquitin-like 1

UCHaa 1559–1955UCSCUbiquitin carboxyl-terminal hydrolase

DUF3517aa 2098–2477UCSCDomain of unknown function (DUF3517)

Gene Aliases

HGNC Name

ubiquitin specific peptidase 9 Y-linked

HGNC Alias Symbols

DFFRY; FAF-Y; AZFA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004654.4

p.A1705S

c.5113G>T

Surrounding Variants

1 paper

NM_004654.4

p.Y1759Y

c.5277T>C

1 paper

NM_004654.4

p.Q1888E

c.5662C>G

1 paper

NM_004654.4

p.G1929*

c.5785G>T

1 paper

NM_004654.4

p.V1931I

c.5791G>A

1 paper

NM_004654.4

p.M1960I

c.5880G>A

1 paper

NM_004654.4

p.M1960I

c.5880G>C

1 paper

NM_004654.4

p.M1960I

c.5880G>T

1 paper

NM_004654.4

p.L2129M

c.6385T>A

2 papers

NM_004654.4

p.Y2179*

c.6537T>A

2 papers

NM_004654.4

p.Y2179*

c.6537T>G