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.C945R

c.2833T>C

Surrounding Variants

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.M944T

c.2831T>C

1 paper

NM_001378743.1

p.Y943*

c.2829T>A

1 paper

NM_001378743.1

p.M946K

c.2837T>A

1 paper

NM_001378743.1

p.Y943*

c.2829T>G

1 paper

NM_001378743.1

p.M946I

c.2838G>A

1 paper

NM_001378743.1

p.M946I

c.2838G>C

1 paper

NM_001378743.1

p.M946I

c.2838G>T

1 paper

NM_001378743.1

p.Y947H

c.2839T>C

1 paper

NM_001378743.1

p.Y947S

c.2840A>C

1 paper

NM_001378743.1

p.Y947*

c.2841C>A