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.N289H

c.865A>C

Surrounding Variants

1 paper

NM_004654.4

p.K300N

c.900G>C

1 paper

NM_004654.4

p.K300N

c.900G>T

1 paper

NM_004654.4

p.I277F

c.829A>T

1 paper

NM_004654.4

p.N305Y

c.913A>T

1 paper

NM_004654.4

p.L318*

c.953T>A

1 paper

NM_004654.4

p.P259L

c.776C>T

3 papers

NM_004654.4

p.N354Y

c.1060A>T

1 paper

NM_004654.4

p.A355T

c.1063G>A

1 paper

NM_004654.4

p.H371R

c.1112A>G

1 paper

NM_004654.4

p.I226F

c.676A>T

2 papers

NM_004654.4

p.Q439_A440Splc

c.1317+3A>G

1 paper

NM_004654.4

p.L453L

c.1359G>A