Varaico: Literature-Extracted Genetic Variants

Gene:USP9Y
Variant:p.T2R

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.T2R
c.5C>G
Surrounding Variants
1 paper
NM_004654.4
p.A3G
c.8C>G
1 paper
NM_004654.4
p.A3A
c.9C>T
1 paper
NM_004654.4
p.T5insFs
c.14dupC
1 paper
NM_004654.4
p.G12R
c.34G>A
1 paper
NM_004654.4
p.Q23*
c.67C>T
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