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.L1058F

c.3174A>C

Surrounding Variants

1 paper

NM_004654.4

p.L1058F

c.3174A>T

4 papers

NM_004654.4

p.A1060T

c.3178G>A

1 paper

NM_004654.4

p.A1098V

c.3293C>T

1 paper

NM_004654.4

p.P1125H

c.3374C>A

1 paper

NM_004654.4

p.A1152P

c.3454G>C

1 paper

NM_004654.4

p.R1169Q

c.3506G>A

1 paper

NM_004654.4

p.V1214I

c.3640G>A

1 paper

NM_004654.4

p.P1036S

c.3106C>T

1 paper

NM_004654.4

p.P1035S

c.3103C>T

1 paper

NM_004654.4

p.A1304A

c.3912G>A

1 paper

NM_004654.4

p.Q1315H

c.3945G>C

1 paper

NM_004654.4

p.Q1315H

c.3945G>T