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.R122P

c.365G>C

Surrounding Variants

1 paper

NM_004654.4

p.R122*

c.364C>T

1 paper

NM_004654.4

p.D123G

c.368A>G

1 paper

NM_004654.4

p.C117Y

c.350G>A

2 papers

NM_004654.4

p.I150T

c.449T>C

2 papers

NM_004654.4

p.R211C

c.631C>T

1 paper

NM_004654.4

p.G109Splc

c.325+2T>C

1 paper

NM_004654.4

p.S106R

c.318T>A

1 paper

NM_004654.4

p.S106R

c.318T>G

1 paper

NM_004654.4

p.S106R

c.316A>C

1 paper

NM_004654.4

p.E96K

c.286G>A

1 paper

NM_004654.4

p.R84Q

c.251G>A

1 paper

NM_004654.4

p.E72Q

c.214G>C