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

28 papers

NM_001378743.1

p.R936*

c.2806C>T

Surrounding Variants

1 paper

NM_001378743.1

p.A935_R936del2

c.2803_2807del6

4 papers

NM_001378743.1

p.L938_L939delFs

c.2814_2817del4

1 paper

NM_001378743.1

p.L938L

c.2814G>A

2 papers

NM_001378743.1

p.L939delFs

c.2815delC

1 paper

NM_001378743.1

p.L939fs

c.2815_2816fs

1 paper

NM_001378743.1

p.G933fs

c.2797_2798fs

1 paper

NM_001378743.1

p.Q932*

c.2794C>T

13 papers

NM_001378743.1

p.D941V

c.2822A>T

1 paper

NM_001378743.1

p.Y943*

c.2829T>A

1 paper

NM_001378743.1

p.Y943*

c.2829T>G

1 paper

NM_001378743.1

p.M944T

c.2831T>C

1 paper

NM_001378743.1

p.C945R

c.2833T>C