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

1–12 of 859 variants

34 papers

NM_001378743.1

p.S371*

c.1112C>A

28 papers

NM_001378743.1

p.R936*

c.2806C>T

24 papers

NM_001378743.1

p.S371*

c.1112C>G

24 papers

NM_001378743.1

p.R758*

c.2272C>T

15 papers

NM_001378743.1

p.M719V

c.2155A>G

14 papers

NM_001378743.1

p.C820delFs

c.2460delC

13 papers

NM_001378743.1

p.Q710*

c.2128C>T

13 papers

NM_001378743.1

p.D941V

c.2822A>T

12 papers

NM_001378743.1

p.I488delFs

c.1462delA

12 papers

NM_001378743.1

p.E747G

c.2240A>G

12 papers

NM_001378743.1

p.Q823_V824Splc

c.2469+1G>A

10 papers

NM_001378743.1

p.L780*

c.2339T>G