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

13 papers

NM_001378743.1

p.D941V

c.2822A>T

Surrounding Variants

1 paper

NM_001378743.1

p.L939fs

c.2815_2816fs

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.L938L

c.2814G>A

2 papers

NM_001378743.1

p.L939delFs

c.2815delC

1 paper

NM_001378743.1

p.M944T

c.2831T>C

4 papers

NM_001378743.1

p.L938_L939delFs

c.2814_2817del4

1 paper

NM_001378743.1

p.C945R

c.2833T>C

1 paper

NM_001378743.1

p.C945Y

c.2834G>A

1 paper

NM_001378743.1

p.C945*

c.2835C>A

1 paper

NM_001378743.1

p.M946K

c.2837T>A

28 papers

NM_001378743.1

p.R936*

c.2806C>T