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

14 papers

NM_001378743.1

p.C820delFs

c.2460delC

Surrounding Variants

2 papers

NM_001378743.1

p.C820*

c.2460C>A

1 paper

NM_001378743.1

p.N821_T822insFs

c.2461_2464dup4

1 paper

NM_001378743.1

p.N821S

c.2462A>G

1 paper

NM_001378743.1

p.T819N

c.2456C>A

1 paper

NM_001378743.1

p.T822ins1

c.2465_2466insAAC

1 paper

NM_001378743.1

p.T822N

c.2465C>A

4 papers

NM_001378743.1

p.T822insFs

c.2465_2466ins4

1 paper

NM_001378743.1

p.Q823K

c.2467C>A

1 paper

NM_001378743.1

p.Q823E

c.2467C>G

10 papers

NM_001378743.1

p.Q823*

c.2467C>T

1 paper

NM_001378743.1

p.C817*

c.2451T>A

1 paper

NM_001378743.1

p.C817Y

c.2450G>A