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

1 paper

NM_001378743.1

p.N373fs

c.1117_1118fs

Surrounding Variants

34 papers

NM_001378743.1

p.S371*

c.1112C>A

2 papers

NM_001378743.1

p.N373insFs

c.1118dupA

24 papers

NM_001378743.1

p.S371*

c.1112C>G

2 papers

NM_001378743.1

p.S371L

c.1112C>T

3 papers

NM_001378743.1

p.W375*

c.1124G>A

3 papers

NM_001378743.1

p.W375*

c.1125G>A

3 papers

NM_001378743.1

p.I377N

c.1130T>A

1 paper

NM_001378743.1

p.Q368*

c.1102C>T

1 paper

NM_001378743.1

p.P367S

c.1099C>T

1 paper

NM_001378743.1

p.E379K

c.1135G>A

6 papers

NM_001378743.1

p.E379*

c.1135G>T

1 paper

NM_001378743.1

p.Q366fs

c.1096_1097fs