Varaico: Literature-Extracted Genetic Variants

CYLD

521 papers

RefSeq Summary

This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been ...

Pfam Domains

CAP_GLYaa 127–202UCSCCAP-Gly domain

CYLD_phos_siteaa 307–471UCSCPhosphorylation region of CYLD, unstructured

CAP_GLYaa 472–539UCSCCAP-Gly domain

UCHaa 592–895UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

CYLD lysine 63 deubiquitinase

HGNC Previous Symbol

CYLD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001378743.1

p.Y485*

c.1455T>G

Surrounding Variants

7 papers

NM_001378743.1

p.Y485*

c.1455T>A

1 paper

NM_001378743.1

p.Y485F

c.1454A>T

1 paper

NM_001378743.1

p.Y485insFs

c.1453dupT

12 papers

NM_001378743.1

p.I488delFs

c.1462delA

1 paper

NM_001378743.1

p.I488fs

c.1462_1463fs

1 paper

NM_001378743.1

p.R489delFs

c.1465delC

1 paper

NM_001378743.1

p.R489C

c.1465C>T

1 paper

NM_001378743.1

p.R489fs

c.1465_1466fs

2 papers

NM_001378743.1

p.P482fs

c.1444_1445fs

1 paper

NM_001042355.2

p.P479_P480delFs

c.1437_1438delTC

1 paper

NM_001378743.1

p.P482fs

c.1444_1445fs

1 paper

NM_001378743.1

p.R489H

c.1466G>A